ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216468
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251685
ClinVar RCV Id:
RCV000237249
RCV000791396
RCV002321918
RCV003321575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Cys252Arg
CA10585324
NM_001195803.2:c.754T>C