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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Leu329_Val335delinsProThrAlaSerLeuProMetThrPro;Tyr338_Asp339delinsAlaGlu;Val341_Ile342del;Asp345_Ala348delinsPro;Asp350Thr;Leu352_Ile361delinsTrpLeuTrpThrGlySerThrAlaThrSer]
CA10585430
NM_001195803.2:c.986_995del