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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Val145_Ile161delinsGlyAlaHisLeuTrpSerArgGlnLeuProValGlnGlnLeuHisLeuHis;Gln163_Asp170delinsProAlaValGlyLeuArgGlnArg;Asp172_Cys173delinsArgLeuArg]
CA2582473460
ENST00000558013.5:c.431dup