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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.[Phe212delinsLeuSer;Cys214_Glu226delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser228Arg;Cys229_Pro230insSer;Leu232_Gly235delinsValPro;Phe239_Asn242delinsSerAla]
CA645509257
ENST00000252444.10:c.636del