Canonical Allele Identifier: PA2499265343
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1066933
ClinVar RCV Id: RCV001378062

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala78Asp
CA387461571
NM_004004.6:c.233C>A