Canonical Allele Identifier: PA891866048
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285417
ClinVar RCV Id: RCV000294629 RCV000372496 RCV000889391 RCV001249053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Arg47Cys
CA5852754
NM_001318088.2:c.139C>T