Allele Registry

Canonical Allele Identifier: PA2573083493

Gene: GJB2 HGNC NCBI

ClinVar Allele:

1330745

ClinVar RCV:

RCV001824481

ClinVar Variation:

1339579

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asn54Ser	CA387461749 NM_004004.6:c.161A>G