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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.[Arg218_Glu226delinsGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser228Arg;Cys229_Pro230insSer;Leu232_Gly235delinsValPro;Phe239_Ile247delinsSerAlaThrAlaProProAlaSer]
CA2695223195
ENST00000252444.10:c.652del