ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214664
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002716048
ClinVar Variation:
1963640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Arg182Gly
CA404082860
NM_001195800.2:c.544C>G