Allele Registry

Canonical Allele Identifier: PA2825288657

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV001281424

ClinVar Variation:

992708

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Arg475Gly	CA379375269 NM_001007593.3:c.1423C>G