Allele Registry

Canonical Allele Identifier: PA645503888

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000589803

RCV000723417

RCV001004575

RCV001045155

RCV001248932

ClinVar Variation:

371341

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Pro186Leu	CA16041479 NM_000543.5:c.557C>T