Canonical Allele Identifier: PA645380209
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000518.1:p.Gln686Ter
NM_000527.5:c.[2055del;2056_2057insT]

NM_000527.5:c.[2055del;2057A>T]

NM_000527.5:c.[2055del;2057A>T;2059A=]

NM_000527.5:c.[2055del;2057A>T;2059_2060d...

NM_000527.5:c.2056C>T