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.His512Gln	CA379376684 XM_011520303.1:c.1536C>A CA379376686 XM_011520303.1:c.1536C>G