Canonical Allele Identifier: PA2829482052
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44761
ClinVar RCV Id: RCV000037866 RCV000211782 RCV000727541 RCV000678892 RCV002271384
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.[Val198_Ile201delinsGln;Ile203_Cys218del;Gly220Ter]
CA261653
NM_004004.6:c.592_600delinsCAGTGTTCATGACATTC