Canonical Allele Identifier: PA2826214986
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251801
ClinVar RCV Id: RCV000238589 RCV003581622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ile283Thr
CA10585417
NM_001195800.2:c.848T>C