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
ENSP00000435350.1:p.[Leu45_Leu49delinsProGly;Asp51_Arg53del;Leu55_Ile76del]
CA2723269730
ENST00000527275.5:c.134_138del