Canonical Allele Identifier: PA2826978638
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496963
ClinVar RCV Id: RCV000597647
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Ser192Arg
CA379370093
NM_001318087.2:c.574A>C
CA379370110
NM_001318087.2:c.576C>G
CA379370113
NM_001318087.2:c.576C>A