ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825743993
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1763184
ClinVar RCV Id:
RCV002434844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124339.1:p.Arg256Cys
CA9513596
NM_001130867.2:c.766C>T