Canonical Allele Identifier: PA645503894
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370432
ClinVar RCV Id: RCV000409293 RCV001229670 RCV001248876 RCV002223835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Arg230Cys
CA16041480
NM_000543.5:c.688C>T