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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Ala697_Cys698delinsCysTrp;Asp700del;Met702_Leu712del;Glu714_Val731del]
CA10585763
NM_000527.5:c.2085_2103del