Canonical Allele Identifier: PA2826214726
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251666
ClinVar RCV Id: RCV000238166
ClinVar Variation Id: 2109937
ClinVar RCV Id: RCV003042122
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys200Ser
CA10585305
NM_001195800.2:c.599G>C
CA404083384
NM_001195800.2:c.598T>A