ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826215760
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
926358
ClinVar RCV Id:
RCV001193792
RCV001812241
RCV001188886
RCV004033388
RCV002279968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Arg583Trp
CA039237
NM_001195800.2:c.1747C>T