ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216458
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1727785
ClinVar RCV Id:
RCV002326125
RCV003581819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Cys250Arg
CA032183
NM_001195803.2:c.748T>C