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
ENSP00000434353.1:p.[Pro199_Phe205delinsLeuSerAlaAlaSerSerSerSer;Asp208_Gly218delinsCysThrGlyIleMetThrThrTrpArgAlaArg;Asp220_Cys228delinsLeuThrValGlnThrHisCysAla]
CA2841005939
ENST00000534405.5:c.596del