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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Thr743_Val746delinsProAspLeuPhe;Asp748del;Ser750_Leu752delinsPro;Ala755_Pro757delinsCysLeu;Leu759_Met767delinsProProLeuGly;His769_Leu772delinsProArgTrpArg]
CA10585810
NM_000527.5:c.2226del