Canonical Allele Identifier: PA2826216039
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251425
ClinVar RCV Id: RCV000238428 RCV000802806 RCV001264593
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys116Arg
CA10585105
NM_001195803.2:c.346T>C