ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826214883
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183110
ClinVar RCV Id:
RCV000161982
RCV000211633
RCV000586690
RCV000825619
RCV002390392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Arg248Trp
CA023441
NM_001195800.2:c.742C>T