Allele Registry

Canonical Allele Identifier: PA221155

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003123

RCV000175622

RCV000192222

RCV000984009

RCV001380607

ClinVar Variation:

2989

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Leu304Pro	CA221154 NM_000543.5:c.911T>C