Allele Registry

Canonical Allele Identifier: PA915971626

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000789195

ClinVar Variation:

637147

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Val63Phe	CA413501347 NM_001097642.3:c.187G>T