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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Asn301_Ala304delinsLysTrpSer;Asp306Trp;Glu308_Asn312delinsArg;Ile314_Tyr315del;Ser317_Met323delinsProAla;Cys325Glu;Gln328Gly;Asp330delinsThrCysPro;Arg331_Ala332insGlu]
CA916080207
ENST00000545707.5:c.903del