Canonical Allele Identifier: PA916001305
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252328
ClinVar RCV Id: RCV000237359
ClinVar Variation Id: 440694
ClinVar RCV Id: RCV000508758 RCV003581678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly805Arg
CA10585858
NM_001195798.2:c.2413G>A
CA404098452
NM_001195798.2:c.2413G>C