Allele Registry

Canonical Allele Identifier: PA2825288730

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000414036

ClinVar Variation:

372512

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Leu520Arg	CA16042855 NM_001007593.3:c.1559T>G