Canonical Allele Identifier: PA2825288478
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305201
ClinVar RCV Id: RCV000293370 RCV000675395 RCV000592219 RCV001081788 RCV001249056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Val300Ile
CA5852706
NM_001007593.3:c.898G>A