Allele Registry

Canonical Allele Identifier: PA2825288482

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003123

RCV000175622

RCV000192222

RCV000984009

RCV001380607

ClinVar Variation:

2989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Leu303Pro	CA221154 NM_001007593.3:c.908T>C