Canonical Allele Identifier: PA2828169630
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 437453
ClinVar RCV Id: RCV000504182 RCV002524354
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Tyr475Cys
CA379376203
NM_001365135.1:c.1424A>G