Canonical Allele Identifier: PA891866049
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498584
ClinVar RCV Id: RCV000592728 RCV001249052 RCV001087561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Arg47His
CA5852755
NM_001318088.2:c.140G>A