Allele Registry

Canonical Allele Identifier: PA916045111

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000596004

RCV001037515

ClinVar Variation:

502573

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Pro184Leu	CA5852623 NM_001365135.1:c.551C>T