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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Thr62_Cys63insSer;Val66_Ser70delinsProAlaAsnPro;Asp72_Phe73delinsThr;Cys75_Gly76delinsAlaVal;Arg78Ala;Asn80_Gln92delinsSerThrAlaAlaPheLeuSerSerGlyGlyAlaMetAlaLys]
CA2497030095
ENST00000557933.5:c.188del