Canonical Allele Identifier: PA2826212977
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1727785
ClinVar RCV Id: RCV002326125 RCV003581819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys336Arg
CA032183
NM_001195799.2:c.1006T>C