Allele Registry

Canonical Allele Identifier: PA097526

Gene: GJB1 HGNC NCBI

ClinVar Allele:

33934

ClinVar RCV:

RCV000020172

RCV000236563

RCV000654844

RCV000789309

RCV002426512

ClinVar Variation:

21082

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Arg75Trp	CA341601 NM_000166.6:c.223C>T