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.Tyr499His
CA5852922
ENST00000527275.5:c.1495T>C
CA217302571
ENST00000527275.5:c.1494_1495delinsAC