Allele Registry

Canonical Allele Identifier: PA658831317

Gene: GJB2 HGNC NCBI

ClinVar Allele:

546787

ClinVar RCV:

RCV000671765

ClinVar Variation:

555857

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ile71Thr	CA387461610 NM_004004.6:c.212T>C