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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.[Tyr338_Asp339delinsMet;Val341_Ile342delinsProSer;Arg344_Ala348delinsAlaGluThrSerArg;Asp350_Asp355delinsProThrGlyTrpLeu;Ile357_His358delinsThrGly;Asn360_Trp363delinsThrAlaThrSer;Asp365_Val367delinsGlyProThr;Leu368dup]
CA10585436
NM_001195803.2:c.1011del