Canonical Allele Identifier: PA339418
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216293
ClinVar RCV Id: RCV000200595 RCV000789860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Thr55Ala
CA339416
NM_001097642.3:c.163A>G