Canonical Allele Identifier: PA2826215592
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252176
ClinVar RCV Id: RCV000238171 RCV002518493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly508Arg
CA10585731
NM_001195800.2:c.1522G>C