Canonical Allele Identifier: PA2825206126
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577321
ClinVar RCV Id: RCV003324398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Thr488Ala
CA379375504
NM_000543.5:c.1462A>G