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
XP_011518606.1:p.Trp393Cys	CA379374435 XM_011520304.2:c.1179G>T CA379374437 XM_011520304.2:c.1179G>C