Canonical Allele Identifier: PA2826214431
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251479
ClinVar RCV Id: RCV000238233 RCV000781499 RCV001384762 RCV003441823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys108Arg
CA10585154
NM_001195800.2:c.322T>C