Canonical Allele Identifier: PA2825288517
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403463
ClinVar RCV Id: RCV000454404 RCV000727004 RCV000672505 RCV001249055 RCV001242152 RCV003152604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Pro331Arg
CA5852724
NM_001007593.3:c.992C>G