Canonical Allele Identifier: PA2825206023
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136988
ClinVar RCV Id: RCV003062328

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Ser381Pro
CA379372998
NM_000543.5:c.1141T>C