Canonical Allele Identifier: PA2825288723
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992711
ClinVar RCV Id: RCV001281427
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Thr517Ile
CA379376193
NM_001007593.3:c.1550C>T