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_000534.3:p.Thr258Ser	CA379370980 NM_000543.5:c.772A>T CA379370982 NM_000543.5:c.773C>G