Canonical Allele Identifier: PA645503957
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289948
ClinVar RCV Id: RCV000370628 RCV000399404 RCV000675398 RCV001084821 RCV001249036 RCV003930180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gly530Ala
CA5852942
NM_000543.5:c.1589G>C