ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380876
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000237741
ClinVar Variation:
252340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asn825Asp
CA10585869
NM_000527.5:c.2473A>G