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HGVS check
Chromosome
chr1
chr2
chr3
chr4
chr5
chr6
chr7
chr8
chr9
chr10
chr11
chr12
chr13
chr14
chr15
chr16
chr17
chr18
chr19
chr20
chr21
chr22
chrX
chrY
chrMT
Please provide a chromosome!
Chromosomal position
Please provide a chromosomal position!
Reference sequence
Please provide a reference sequence!
Alternative sequence
Please provide an alternative sequence!
Reference genome build
Choose reference genome build
GRCh38 (hg38)
GRCh37 (hg19)
Please select a reference genome build.
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Gene
Reference transcript
Please provide a reference transcript!
HGVS c.
Please provide a valid HGVS c. string of the form: c.position amino-acid-change (without space)
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