ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212589
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927670
ClinVar RCV Id:
RCV001191079
RCV002224017
RCV002480636
RCV003235489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Gln213Glu
CA029271
NM_001195799.2:c.637C>G