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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Gly119_Ile122delinsAlaSerLeuGly;Arg124_Glu140delinsSerSerValThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser142Arg;Cys143_Pro144insSer;Leu146_Gly149delinsVal]
CA10584870
ENST00000557933.5:c.356_362del