ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212419
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251328
ClinVar RCV Id:
RCV000238110
RCV000775045
RCV002365238
RCV004017545
RCV001729479
RCV003409368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Glu167Lys
CA10585018
NM_001195799.2:c.499G>A