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_011518605.1:p.His388Gln	CA379374342 XM_011520303.1:c.1164C>A CA379374344 XM_011520303.1:c.1164C>G