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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Phe766del;Leu768_Arg773delinsProSerMetGluGlu;Lys775_Glu794delinsAlaAla]
CA10585861
NM_001195799.2:c.2294_2295insG
CA2573320459
NM_001195799.2:c.2294dup