ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375536
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000237248
RCV002518473
ClinVar Variation:
251095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Pro84Arg
CA10584810
NM_000527.5:c.251C>G