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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Thr274_Glu277delinsArg;Pro279_His285delinsThrGlnGlnValGlnVal;Gly287_Trp305delinsGlnArgArgMetHisHisProGlyGlnSerLeuGlnHisGly]
CA10585152
ENST00000558013.5:c.820_827del