Canonical Allele Identifier: PA915999711
Gene: LDLR HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001182727.1:p.Ala391Thr
NM_001195798.2:c.[1167del;1170G>A;1172C>A...

NM_001195798.2:c.1171G>A