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.[Gly366_Tyr369delinsThrProValSer;Leu371del;Pro373_Ile380del;Asn383_Cys387del;Arg389_Leu395del;Asn397_Gly403del]
CA2612222824
ENST00000342245.8:c.1096_1120del