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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Gly304_Gly305delinsValAla;Asp307_Asn333delinsThrAlaArgThrAsnLeuThrArgLysThrAlaLeuTrpProProValAlaLeuThrAsnSerSerAlaLeuMetGluThr]
CA023735
ENST00000252444.10:c.911del