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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Leu758_Phe760delinsPro;Cys762_Leu763delinsProGly;Val765_Phe766del;Leu768_Arg773delinsProSerMetGluGlu;Lys775_Lys789delinsAlaAla]
CA645509299
ENST00000535915.5:c.2271_2278del