Canonical Allele Identifier: PA2825205925
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813478
ClinVar RCV Id: RCV001004580 RCV001251129 RCV001366811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Ala283Thr
CA5852695
NM_000543.5:c.847G>A