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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Glu185_Cys191delinsValArgAspGlnArgMet;Asp193_Asn195del;Gly197_Asp204delinsGlnGlnArgArg;Lys206_Cys211delinsPheProArg;Cys213_Asp215delinsGln]
CA10585205
ENST00000545707.5:c.554_555del