ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216610
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
246077
ClinVar RCV:
RCV000237865
RCV001350143
RCV002446478
ClinVar Variation:
251763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Leu299Pro
CA10585383
NM_001195803.2:c.896T>C