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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Phe807del;Leu809_Arg814delinsProSerMetGluGlu;Lys816_Glu835delinsAlaAla]
CA10585861
ENST00000558518.6:c.2417_2418insG
CA2573320459
ENST00000558518.6:c.2417dup