Canonical Allele Identifier: PA2828169648
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679033
ClinVar RCV Id: RCV003474047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Asn478Ser
CA379376272
NM_001365135.1:c.1433A>G