Canonical Allele Identifier: PA658663719
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447432
ClinVar RCV Id: RCV000516785 RCV000544254 RCV000789189
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Tyr160His
CA413502688
NM_001097642.3:c.478T>C