Allele Registry

Canonical Allele Identifier: PA098881

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000011196

RCV000011197

ClinVar Variation:

10451

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Val136Ala	CA121071 NM_000166.6:c.407T>C