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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Cys143_Arg144delinsPhe;Leu146_Tyr147del;Gln150_Asp152delinsThrCys;Ser154_Ser157delinsLysGlyThrVal;Phe159_Leu164delinsProAlaArgProSer;Gly166_His170del;Ser172_Trp173delinsThrAla]
CA2573050575
ENST00000535915.5:c.428_430delinsTT