ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214932
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251773
ClinVar RCV Id:
RCV000238242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Thr266Lys
CA10585392
NM_001195800.2:c.797C>A