Canonical Allele Identifier: PA2499237708
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013946
ClinVar RCV Id: RCV001312609
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Cys201Ser
CA413503266
NM_001097642.3:c.601T>A
CA413503268
NM_001097642.3:c.602G>C