Canonical Allele Identifier: PA1139699279
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992701
ClinVar RCV Id: RCV001281417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Pro94Arg
CA379373491
NM_001318088.2:c.281C>G