Allele Registry

Canonical Allele Identifier: PA246590

Gene: SMPD1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

195255

ClinVar RCV:

RCV000179328

RCV000962425

RCV001081864

RCV001107855

RCV001249037

RCV001786338

RCV003967440

ClinVar Variation:

198094

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Glu517Val	CA246589 NM_000543.5:c.1550A>T