Allele Registry

Canonical Allele Identifier: PA2825288653

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281423

RCV003235538

ClinVar Variation:

992707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Tyr468Cys	CA379375121 NM_001007593.3:c.1403A>G