Allele Registry

Canonical Allele Identifier: PA645503894

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000409293

RCV001229670

RCV001248876

RCV002223835

ClinVar Variation:

370432

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Arg230Cys	CA16041480 NM_000543.5:c.688C>T