Canonical Allele Identifier: PA2826217177
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252103
ClinVar RCV Id: RCV000237817 RCV001857832 RCV002411103
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ile501Thr
CA10585673
NM_001195803.2:c.1502T>C