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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.[Val93_Pro105delinsTrpThrAlaThrThrAlaGlnThrSerLysAla;Ala107_Cys116delinsLeuTrpProProValAlaLeuThrAsnSer;Asp118_Ile122delinsAlaLeuMetGluThrAla]
CA2739276479
ENST00000545707.5:c.276del