Allele Registry

Canonical Allele Identifier: PA098412

Gene: GJB1 HGNC NCBI

ClinVar Allele:

25471

ClinVar RCV:

RCV000011177

RCV001053029

RCV001090308

ClinVar Variation:

10432

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Pro172Ser	CA255232 NM_000166.6:c.514C>T