Allele Registry

Canonical Allele Identifier: PA2826979052

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281423

RCV003235538

ClinVar Variation:

992707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Tyr162Cys	CA379375121 NM_001318088.2:c.485A>G