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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Ala307Thr;Asp309Thr;Leu311_Asp314delinsTrpLeu;Ile316_His317delinsThrGly;Asn319_Trp322delinsThrAlaThrSer;Asp324_Val326delinsGlyProThr;Gly328_Val330delinsSerTrpAlaLeu;Val332_Lys336delinsLeuLeuArgIleProArg]
CA10585446
ENST00000455727.6:c.919_920delinsA