Allele Registry

Canonical Allele Identifier: PA2825077050

Gene: GJB1 HGNC NCBI

ClinVar Allele:

102962

ClinVar RCV:

RCV000083303

ClinVar Variation:

97063

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Pro58Ser	CA267507 NM_000166.6:c.172C>T