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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.[Trp379delinsTyrPro;Val381delinsLeuArg;Cys383Ile;Phe385_Arg389delinsLeuAsnMetAsnPheCys;Pro391_Phe401delinsArgGluAsnPheTrpLeuLeuIleAsnSerThrAsp;Pro402_Ter403insAlaGly]
CA2612222824
ENST00000534405.5:c.1136_1160del