ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826212887
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_001182728.1:p.Arg309Gly
CA404082860
NM_001195799.2:c.925C>G