Allele Registry

Canonical Allele Identifier: PA2828169640

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000414036

ClinVar Variation:

372512

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Leu477Arg	CA16042855 NM_001365135.1:c.1430T>G