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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.[Glu228_Cys248del;His250_Arg257del]
CA10585070
NM_000527.5:c.675_681dup