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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.[Asp548_Asn550del;Gly552_Asn553delinsGln;Lys555_Leu558delinsGlyGlnPro;Glu561_Ala565del;Pro567_Ser569del;Ala571_Phe578delinsGlyGly]
CA10585604
ENST00000535915.5:c.1643_1644del