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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000340409.4:p.[Phe333_Glu352delinsSerLeuArgAlaThrThrProProAlaGlySerMetLysArgTrpProArgLeuGlySer;Trp354delinsGlyCys;Ala357_Thr362delinsLysProCysAla]
CA252521
ENST00000342245.8:c.996del