Allele Registry

Canonical Allele Identifier: PA915998974

Gene: GJB2 HGNC NCBI

ClinVar Variation Id: 804361

ClinVar RCV Id: RCV000991326

ClinVar Variation Id: 2095560

ClinVar RCV Id: RCV003025780

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Phe69Leu	CA387461620 NM_004004.6:c.207C>A CA387461621 NM_004004.6:c.207C>G CA387461626 NM_004004.6:c.205T>C