Canonical Allele Identifier: PA115902
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2994
ClinVar RCV Id: RCV000003128 RCV000003129 RCV000169297 RCV000812595 RCV000781865 RCV001248931 RCV002512693 RCV003333947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gln294Lys
CA115901
NM_000543.5:c.880C>A