ClinGen Allele Registry
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Canonical Allele Identifier:
PA645378098
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251673
ClinVar RCV Id:
RCV000237895
RCV000791447
RCV002243924
RCV002436075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly373Asp
CA10585312
NM_000527.5:c.1118G>A