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_000534.3:p.Asn450Lys	CA379374778 NM_000543.5:c.1350C>A CA379374780 NM_000543.5:c.1350C>G