Canonical Allele Identifier: PA2826215659
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252217
ClinVar RCV Id: RCV000238344 RCV002418070
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys530Trp
CA10585771
NM_001195800.2:c.1590C>G