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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.[Arg778_Pro784del;Ser786_Val787del;Ala789_Phe807delinsLys]
CA10585828
NM_000527.5:c.2333_2334insC