Allele Registry

Canonical Allele Identifier: PA340975

Gene: GJB1 HGNC NCBI

ClinVar Allele:

25485

ClinVar RCV:

RCV000011191

RCV000486043

RCV000789872

RCV001851787

ClinVar Variation:

10446

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Thr55Ile	CA340973 NM_001097642.3:c.164C>T