Allele Registry

Canonical Allele Identifier: PA2826979169

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000211547

RCV003765358

ClinVar Variation:

225624

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305017.1:p.Leu251Pro	CA10576033 NM_001318088.2:c.752T>C