ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000772
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252103
ClinVar RCV Id:
RCV000237817
RCV001857832
RCV002411103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ile628Thr
CA10585673
NM_001195798.2:c.1883T>C