Canonical Allele Identifier: PA645379721
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000518.1:p.Phe619Leu
NM_000527.5:c.1855T>C

NM_000527.5:c.1857T>A

NM_000527.5:c.1857T>G