ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212411
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1411051
ClinVar RCV:
RCV001973440
RCV002352683
ClinVar Variation:
1474520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys163Arg
CA404077804
NM_001195799.2:c.487T>C