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
ENSP00000435950.1:p.[Tyr315del;Ala317_Val318delinsCysCys;Asn320_Tyr344del]
CA2612222335
ENST00000533123.5:c.942_943del