Canonical Allele Identifier: PA2825076596
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418234
ClinVar RCV Id: RCV000480735 RCV000697574 RCV001027491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Gly5Val
CA16621491
NM_000166.6:c.14G>T