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_001007594.2:p.Lys434Asn	CA379374393 NM_001007593.3:c.1302G>C CA379374396 NM_001007593.3:c.1302G>T