Canonical Allele Identifier: PA2825288639
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992704
ClinVar RCV Id: RCV001281420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Ala453Asp
CA379374837
NM_001007593.3:c.1358C>A