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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.[Ser243_Ile247delinsArgAlaProProAlaSer;Gln249_Asp256delinsSerCysGlyProAlaThrThrThr;Asp258_Gly272delinsThrAlaLysMetAlaArgMetSerGlyArgSerAlaValGlyVal]
CA916081227
ENST00000252444.10:c.727_728dup