Canonical Allele Identifier: PA2826214965
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251792
ClinVar RCV Id: RCV000237729 RCV000494596 RCV000791422 RCV000844741 RCV002379064
ClinVar Variation Id: 251793
ClinVar RCV Id: RCV000238274 RCV001857827 RCV001699172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Trp275Cys
CA10585409
NM_001195800.2:c.825G>C
CA10585410
NM_001195800.2:c.825G>T