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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Ala475Thr;Asp477Thr;Leu479_Asp482delinsTrpLeu;Ile484_His485delinsThrGly;Asn487_Trp490delinsThrAlaThrSer;Asp492_Val494delinsGlyProThr;Gly496_Val498delinsSerTrpAlaLeu;Val500_Lys504delinsLeuLeuArgIleProArg]
CA10585446
NM_001195798.2:c.1423_1424delinsA