ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001054
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252217
ClinVar RCV Id:
RCV000238344
RCV002418070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys698Trp
CA10585771
NM_001195798.2:c.2094C>G