Canonical Allele Identifier: PA2828169519
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024216
ClinVar RCV Id: RCV002863151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Gly448Arg
CA379375554
NM_001365135.1:c.1342G>C