Canonical Allele Identifier: PA645378445
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000518.1:p.Asn439Lys
NM_000527.5:c.1317T>A

NM_000527.5:c.1317T>G