Canonical Allele Identifier: PA2573233306
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394382
ClinVar RCV Id: RCV001927387

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg127Gly
CA246460225
NM_004004.6:c.379C>G