Canonical Allele Identifier: PA2573083496
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1328920
ClinVar RCV Id: RCV001797552

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu114Lys
CA6904279
NM_004004.6:c.340G>A