Allele Registry

Canonical Allele Identifier: PA891852278

Gene: GJB2 HGNC NCBI

ClinVar Allele:

578007

ClinVar RCV:

RCV000714238

RCV003660831

ClinVar Variation:

586962

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asp66Tyr	CA387461647 NM_004004.6:c.196G>T