Canonical Allele Identifier: PA235486
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000518.1:p.Ala391Thr
NM_000527.5:c.[1167del;1170G>A;1172C>A;11...

NM_000527.5:c.1171G>A