Allele Registry

Canonical Allele Identifier: PA255234

Gene: GJB1 HGNC NCBI

ClinVar Allele:

25471

ClinVar RCV:

RCV000011177

RCV001053029

RCV001090308

ClinVar Variation:

10432

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Pro172Ser	CA255232 NM_001097642.3:c.514C>T