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.Phe154Leu	CA379372848 ENST00000531303.5:c.462C>A CA379372852 ENST00000531303.5:c.462C>G CA472736648 ENST00000531303.5:c.460T>C