ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306133
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200919
ClinVar RCV Id:
RCV000589041
RCV000826174
RCV000237811
RCV001283997
RCV002354478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys197Tyr
CA023730
NM_000527.5:c.590G>A