Allele Registry

Canonical Allele Identifier: PA916022250

Gene: SMPD1 HGNC NCBI

ClinVar Allele:

18034

ClinVar RCV:

RCV000003130

RCV000780737

RCV001249038

RCV001824114

RCV001851602

ClinVar Variation:

2995

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Ala484Glu	CA252527 NM_001318087.2:c.1451C>A