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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Gly373_Lys390delinsAlaThrSerAlaSerValArgLysAlaSerSerTrpThrProThrArgArgPro;Cys392_Gly396delinsArgLeuTrpAlaPro;Ile398_Phe403delinsProThrSerSerSer]
CA2573050594
ENST00000559340.2:c.1118_1121del