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_001352064.1:p.[Ser154Glu;Ser156_Asp171del;Phe173_Thr182del]
CA2841005936
NM_001365135.1:c.458dup