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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Phe126_Val127insSer;Cys128_Glu140delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser142Arg;Cys143_Pro144insSer;Leu146_Gly149delinsValPro;Phe153_Asn156delinsSerAlaThr]
CA10583774
NM_000527.5:c.379del