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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.[Gln125_Phe126delinsSerSerSer;Cys128_Glu140delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser142Arg;Cys143_Pro144insSer;Leu146_Gly149delinsValPro;Phe153_Gln154del]
CA2695223193
ENST00000557933.5:c.372del