ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212828
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226344
ClinVar RCV Id:
RCV000211666
RCV001293738
RCV001812218
RCV002381726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys288Tyr
CA031041
NM_001195799.2:c.863G>A