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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Asp36Val;Lys38_Lys43delinsLeuArg;Val45_Cys52del;Asp54_Gly55delinsArg;Asp57_Thr62del;Leu64_Ser70del;Asp72_Cys75del;Gly77del]
CA9204945
ENST00000545707.5:c.107_129del