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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Ile169_Cys190delinsAlaSerThrProAlaGlyAlaValMetValAlaProThrAlaArgThrAsnLeuThrArgLysThr;Val192_Pro197delinsLeuTrpProProValAlaLeu]
CA10585021
ENST00000535915.5:c.502_503dup