Allele Registry

Canonical Allele Identifier: PA2825288238

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000591040

RCV001442227

ClinVar Variation:

500518

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Arg79Gln	CA5852531 NM_001007593.3:c.236G>A