Allele Registry

Canonical Allele Identifier: PA645503961

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000211547

RCV003765358

ClinVar Variation:

225624

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Leu558Pro	CA10576033 NM_000543.5:c.1673T>C