Allele Registry

Canonical Allele Identifier: PA2828169557

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000179329

RCV000674497

RCV000700960

RCV001248982

RCV003955080

ClinVar Variation:

198095

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Arg454Cys	CA275340 NM_001365135.1:c.1360C>T