Canonical Allele Identifier: PA2825288413
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496823
ClinVar RCV Id: RCV000591054 RCV001385503 RCV001004578 RCV001248869 RCV003338674
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Glu247Lys
CA217299538
NM_001007593.3:c.739G>A