ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826214072
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226394
ClinVar RCV Id:
RCV000211657
RCV001034620
RCV001553637
RCV001529505
RCV002444850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Val759_Leu761del
CA023662
NM_001195799.2:c.2274_2282del