Allele Registry

Canonical Allele Identifier: PA097352

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000197033

RCV000235360

RCV000754745

RCV000789836

ClinVar Variation:

216039

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Arg183Cys	CA336920 NM_000166.6:c.547C>T