Allele Registry

Canonical Allele Identifier: PA098595

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000011189

RCV000789235

ClinVar Variation:

10444

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Ser85Cys	CA255257 NM_000166.6:c.254C>G