Allele Registry

Canonical Allele Identifier: PA113219

Gene: GJB2 HGNC NCBI

ClinVar Allele:

32067

ClinVar RCV:

RCV000018556

ClinVar Variation:

17028

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asp50Tyr	CA127031 NM_004004.6:c.148G>T