ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999986
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251783
ClinVar RCV Id:
RCV000237607
RCV000775063
RCV002379061
RCV003401205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ile441Thr
CA10585400
NM_001195798.2:c.1322T>C