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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Leu416_Val422delinsProThrAlaSerLeuProMetThrPro;Tyr425_Asp426delinsAlaGlu;Val428_Ile429del;Asp432_Ala435delinsPro;Asp437Thr;Leu439_Ile448delinsTrpLeuTrpThrGlySerThrAlaThrSer]
CA10585430
ENST00000560467.2:c.1247_1256del