Allele Registry

Canonical Allele Identifier: PA658804861

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000594397

RCV003767346

RCV003992340

ClinVar Variation:

496822

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Pro373Ser	CA379372866 NM_000543.5:c.1117C>T