Allele Registry

Canonical Allele Identifier: PA916022249

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000169478

RCV000521803

RCV000802459

RCV001249039

ClinVar Variation:

189075

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305016.1:p.Pro477Leu	CA274348 NM_001318087.2:c.1430C>T