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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Gly595_Val597del;Gly599_Asn602delinsThrLeuLeuAla;Lys604_Val609delinsGluMetArg;Ala611_Leu612del;Ile614_Leu616del;Ile618del;Leu620_Leu624delinsAla]
CA10585826
NM_001195803.2:c.1784del