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_001305016.1:p.Trp86Cys	CA379368311 NM_001318087.2:c.258G>T CA379368313 NM_001318087.2:c.258G>C