ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826211303
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251030
ClinVar RCV Id:
RCV000238380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys46Gly
CA10584764
NM_001195798.2:c.136T>G