Canonical Allele Identifier: PA916000794
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252108
ClinVar RCV Id: RCV000237907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr635Ile
CA10585678
NM_001195798.2:c.1904C>T