Canonical Allele Identifier: PA2499237705
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1168253
ClinVar RCV Id: RCV001518365 RCV001826374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val148Ile
CA10445302
NM_001097642.3:c.442G>A