ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212768
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000238436
RCV000791455
RCV002374400
ClinVar Variation:
251532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Lys270Arg
CA10585201
NM_001195799.2:c.809A>G