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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.[Asp221_Cys231delinsTrpThrAlaArgThrAsnLeuThrArgLysThr;Val233_His250delinsLeuTrpProProValAlaLeuThrAsnSerSerAlaLeuMetGluThrAlaSer]
CA358877
ENST00000558013.5:c.660_661insTG