Canonical Allele Identifier: PA645503918
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288073
ClinVar RCV Id: RCV000292122 RCV001004584 RCV001249051 RCV001218398
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Tyr369Cys
CA10605962
NM_000543.5:c.1106A>G