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
ENSP00000340409.4:p.[Lys189del;Ser192del;Pro194_Ala195delinsGlnThr;Gly197_Gly218del]
CA2612221355
ENST00000342245.8:c.564_565insCCCCCCCCCC
CA2612221515
ENST00000342245.8:c.564_565insCCACCCCCCC