Canonical Allele Identifier: PA916000598
Gene: LDLR HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001182727.1:p.Lys581Ter
NM_001195798.2:c.[1737del;1739C>T;1742A>T...

NM_001195798.2:c.[1737del;1739C>T;1742A>T...

NM_001195798.2:c.1741A>T