Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000432625.1:p.Phe168Leu	CA379373091 ENST00000531303.5:c.504T>A CA379373098 ENST00000531303.5:c.504T>G CA472736682 ENST00000531303.5:c.502T>C