Allele Registry

Canonical Allele Identifier: PA273832

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV001895869

ClinVar Variation:

1384271

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Pro70Ala	CA273831 NM_004004.6:c.208C>G