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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Ser194_Ser198delinsThr;Phe200_Cys204delinsArgProLeuLeuGly;Ser206_Ser213delinsArgValProLeuProLys;Cys216_Asp224delinsValHisProLeuGlnLeuAlaLeu]
CA2573320539
ENST00000559340.2:c.581_583delinsCTGCTCG