Allele Registry

Canonical Allele Identifier: PA2825288831

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179325

RCV000192229

RCV000413544

RCV000539031

RCV000781864

RCV001004371

RCV003967439

ClinVar Variation:

198093

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Arg609del	CA252507 NM_001007593.3:c.1826_1828del