Canonical Allele Identifier: PA134959
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44734
ClinVar RCV Id: RCV000037833

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.His94Leu
CA134958
NM_004004.6:c.281A>T