Canonical Allele Identifier: PA916022248
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 385606
ClinVar RCV Id: RCV000436575 RCV000984224 RCV001810448 RCV001248879 RCV003959931 RCV003114556 RCV003313954
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Arg476Gln
CA5852891
NM_001318087.2:c.1427G>A