Canonical Allele Identifier: PA273375
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167709
ClinVar RCV Id: RCV000153979 RCV000723416 RCV001045638 RCV001248935 RCV001174779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Cys159Arg
CA273374
NM_000543.5:c.475T>C