This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ACTN3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000422007.1:p.[Glu617_Tyr639delinsArgLeuThrGluSerGluValProSerTrpAlaSerArgValArgSerArgArgSerAlaArgArgMet;Leu641_Arg642delinsCysGly;Cys644_Thr646delinsAlaPro]
CA2614514217
ENST00000502692.5:c.1848del