Canonical Allele Identifier: PA2826215511
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252115
ClinVar RCV Id: RCV000238205 RCV000775081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala475Val
CA10585683
NM_001195800.2:c.1424C>T