Canonical Allele Identifier: PA2828169557
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198095
ClinVar RCV Id: RCV000179329 RCV000674497 RCV000700960 RCV001248982 RCV003955080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Arg454Cys
CA275340
NM_001365135.1:c.1360C>T