Canonical Allele Identifier: PA2826212693
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251492
ClinVar RCV Id: RCV000237446 RCV002446474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys248Arg
CA10585164
NM_001195799.2:c.742T>C