Canonical Allele Identifier: PA658663691
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447428
ClinVar RCV Id: RCV000516283 RCV000552811 RCV000789233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Leu89Pro
CA413501709
NM_001097642.3:c.266T>C