Canonical Allele Identifier: PA1139673894
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_000534.3:p.Thr518Ile
CA379376193
NM_000543.5:c.1553C>T