Allele Registry

Canonical Allele Identifier: PA098402

Gene: GJB1 HGNC NCBI

ClinVar Allele:

471000

ClinVar RCV:

RCV000559484

RCV000789937

ClinVar Variation:

477599

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Pro172Leu	CA413502914 NM_000166.6:c.515C>T