Canonical Allele Identifier: PA916001152
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161286
ClinVar RCV Id: RCV000210245 RCV000815637 RCV000996761 RCV002051679 RCV002444608
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg751Gln
CA023654
NM_001195798.2:c.2252G>A