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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_Ile161delinsSerAlaHisLeuTrpSerArgGlnLeuProValGlnGlnLeuHisLeuHis;Gln163_Asp170delinsProAlaValGlyLeuArgGlnArg;Asp172_Glu174delinsArgLeuArg]
CA2497030116
ENST00000558013.5:c.432_433insA