Canonical Allele Identifier: PA645503895
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288072
ClinVar RCV Id: RCV000383577 RCV000671461 RCV001087433 RCV001248983 RCV002282109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Arg230His
CA5852660
NM_000543.5:c.689G>A