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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Glu398_Cys404delinsValArgAspGlnArgMet;Asp406_Asn408del;Gly410_Asp417delinsGlnGlnArgArg;Lys419_Cys424delinsPheProArg;Cys426_Asp428delinsGln]
CA10585205
ENST00000252444.10:c.1193_1194del