Allele Registry

Canonical Allele Identifier: PA255253

Gene: GJB1 HGNC NCBI

ClinVar Allele:

25478

ClinVar RCV:

RCV000011184

ClinVar Variation:

10439

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Val13Leu	CA255251 NM_001097642.3:c.37G>T CA413499475 NM_001097642.3:c.37G>C