Allele Registry

Canonical Allele Identifier: PA2828169457

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281424

ClinVar Variation:

992708

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Arg432Gly	CA379375269 NM_001365135.1:c.1294C>G