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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Ile269_Cys277delinsAsnGlnArgValArgAspGlnArgMet;Asp279_Asn281del;Gly283_Asp290delinsGlnGlnArgArgLeuPheProArg;Lys292_Glu296delinsGln;Leu298_Cys299del]
CA658653708
ENST00000535915.5:c.805dup