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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Val638_Arg646delinsArgSerSerPheTyrGlyArgThrGlyGly;Lys648_Asn657delinsArgThrSerThrAlaSerThrLeuThrThr;Val659_Val668delinsSerIleArgArgProGlnArgMetArg]
CA2573050627
ENST00000455727.6:c.1912_1914delinsAGAAG