Canonical Allele Identifier: PA916000617
Gene: LDLR HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001182727.1:p.Ser584Pro
NM_001195798.2:c.[1750del;1752C=;1753dup]...

NM_001195798.2:c.[1750del;1753dup]

NM_001195798.2:c.1750T>C