Canonical Allele Identifier: PA2828169308
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 203427
ClinVar RCV Id: RCV000192224 RCV001380608
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Ala359Asp
CA347291
NM_001365135.1:c.1076C>A