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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.[Gly859_Asp860del;Gly863_Asn866delinsThrLeuLeuAla;Lys868_Val873delinsGluMetArg;Ala875_Leu876del;Ile878_Leu880del;Ile882del;Leu884_Leu888delinsAla]
CA10585825
ENST00000252444.10:c.2575_2576insTA