Canonical Allele Identifier: PA2825206140
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582293
ClinVar RCV Id: RCV003333259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Asn494Ile
CA379375576
NM_000543.5:c.1481A>T