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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.[Arg164del;Asn166_Gln171delinsSerThrAlaAla;Trp173_Asp176delinsLeuSerSerGly;Gln178_Glu187delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly189_Cys190delinsThrSerLysAlaVal;Lys193Arg]
CA10584800
ENST00000252444.10:c.490del