Canonical Allele Identifier: PA347288
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 203425
ClinVar RCV Id: RCV000192220 RCV001004576 RCV001852412 RCV001194004 RCV003488441
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Ala198Pro
CA347287
NM_000543.5:c.592G>C