Allele Registry

Canonical Allele Identifier: PA658663734

Gene: GJB1 HGNC NCBI

ClinVar Allele:

471000

ClinVar RCV:

RCV000559484

RCV000789937

ClinVar Variation:

477599

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