ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214552
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251538
ClinVar RCV Id:
RCV000238496
RCV002374401
RCV003581611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Cys145Gly
CA10585208
NM_001195800.2:c.433T>G