Canonical Allele Identifier: PA2825288339
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 203425
ClinVar RCV Id: RCV000192220 RCV001004576 RCV001852412 RCV001194004 RCV003488441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Ala197Pro
CA347287
NM_001007593.3:c.589G>C