ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825743983
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1762462
ClinVar RCV Id:
RCV002427958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124339.1:p.Lys250Glu
CA9513602
NM_001130867.2:c.748A>G