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
ENSP00000431479.1:p.Gln16His	CA379371185 ENST00000530395.1:c.48G>C CA379371186 ENST00000530395.1:c.48G>T