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
NP_001007594.2:p.Val146Leu	CA379368902 NM_001007593.3:c.436G>C CA379368903 NM_001007593.3:c.436G>T