ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212739
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183101
ClinVar RCV Id:
RCV000161972
RCV001179371
RCV002279949
RCV002372046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Arg262Gln
CA023789
NM_001195799.2:c.785G>A