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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Gly272_Tyr274del;Gln277_Asp279delinsThrCys;Ser281_Ser284delinsLysGlyThrVal;Phe286_Leu291delinsProAlaArgPro;Gly293_His297del;Trp300_Arg301delinsThrAla]
CA10584986
ENST00000252444.10:c.815del