Allele Registry

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Canonical Allele Identifier: PA2828169491

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662004

ClinVar RCV Id: RCV000819539 RCV001255598 RCV003473504

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352064.1:p.Ser442Arg	CA217302419 NM_001365135.1:c.1326T>G CA379375455 NM_001365135.1:c.1324A>C CA379375472 NM_001365135.1:c.1326T>A