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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Gly446_His456delinsAlaSerThrGlyLeuThrProAsnPheThrPro;Ile458_Ser459delinsGlnAla;Ile461_Asn467delinsMetSerThrGlyAlaThrGly;Lys469_Glu475delinsProSerTrpArgMet]
CA2573050611
XM_011528011.1:c.1335_1338del