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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Gly218_Gly219delinsValAla;Asp221_Asn247delinsThrAlaArgThrAsnLeuThrArgLysThrAlaLeuTrpProProValAlaLeuThrAsnSerSerAlaLeuMetGluThr]
CA023735
NM_001195798.2:c.653del