Allele Registry

Canonical Allele Identifier: PA098193

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000143794

RCV002512552

ClinVar Variation:

155725

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Met194Val	CA270643 NM_000166.6:c.580A>G