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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Gly533_His543delinsAlaSerThrGlyLeuThrProAsnPheThrPro;Ile545_Ser546delinsGlnAla;Ile548_Asn554delinsMetSerThrGlyAlaThrGly;Lys556_Glu562delinsProSerTrpArgMet]
CA2573050611
ENST00000560467.2:c.1596_1599del