Canonical Allele Identifier: PA658663734
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 477599
ClinVar RCV Id: RCV000559484 RCV000789937
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Pro172Leu
CA413502914
NM_001097642.3:c.515C>T