Canonical Allele Identifier: PA645503933
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_000534.3:p.Arg476Gln
CA5852891
NM_000543.5:c.1427G>A