Allele Registry

Canonical Allele Identifier: PA2826979003

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003126

RCV000192225

RCV000411474

RCV000634570

RCV000723415

ClinVar Variation:

2992

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.His116Tyr	CA252523 NM_001318088.2:c.346C>T