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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000434353.1:p.[Tyr397_Glu398insAsnPheCysSerArg;Glu398_Phe399insAsn;Phe399_Leu400insTrp;Phe401delinsLeuIleAsnSerThrAsp;Pro402_Ter403insAlaGlyGlnLeuGlnTrpLeuValGlyGluLeuGlnAla]
CA2580083932
ENST00000534405.5:c.1192del