ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216609
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1120245
ClinVar RCV Id:
RCV001450031
RCV001508840
RCV002377745
RCV002557526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Leu299Arg
CA404084869
NM_001195803.2:c.896T>G