Canonical Allele Identifier: PA645379414
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000518.1:p.Lys581Ter
NM_000527.5:c.[1737del;1739C>T;1742A>T;17...

NM_000527.5:c.[1737del;1739C>T;1742A>T;17...

NM_000527.5:c.1741A>T