Canonical Allele Identifier: PA658663718
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 477598
ClinVar RCV Id: RCV000529489 RCV000789250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Gly159Ser
CA413502674
NM_001097642.3:c.475G>A