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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.[Gly532_His542delinsAlaSerThrGlyLeuThrProAsnPheThrPro;Ile544_Ser545delinsGlnAla;Ile547_Asn553delinsMetSerThrGlyAlaThrGly;Lys555_Glu561delinsProSerTrpArgMet]
CA2573050611
ENST00000535915.5:c.1593_1596del