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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.[Val371_Arg386delinsLeuCysCysGlyTyrGlnGlyArgGluGluGluAsnValIleGlnGly;Asn388_Val400delinsArgLeuGlnAlaLysGlyHisArgGlyGlySerCysSer]
CA1139666272
ENST00000545707.5:c.1111_1112del