Canonical Allele Identifier: PA2825288660
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 385606
ClinVar RCV Id: RCV000436575 RCV000984224 RCV001810448 RCV001248879 RCV003959931 RCV003114556 RCV003313954
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Arg475Gln
CA5852891
NM_001007593.3:c.1424G>A