ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212886
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000211597
RCV001183695
RCV002259322
RCV002399776
ClinVar Variation:
226343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Arg309Pro
CA10576296
NM_001195799.2:c.926G>C