Allele Registry

Canonical Allele Identifier: PA645503956

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000414036

ClinVar Variation:

372512

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Leu521Arg	CA16042855 NM_000543.5:c.1562T>G