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: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.[Leu297_Ala302delinsSerGlnHis;Val304_Gly309del;Val311del;Val313_Ser327del;Pro329_Phe332del]
CA912972812
NM_001007593.3:c.889_898del