ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573186290
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1352275
ClinVar RCV Id:
RCV002047476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Thr695Pro
CA404093845
NM_001195798.2:c.2083A>C