ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825744089
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134109
ClinVar RCV Id:
RCV000120781
RCV002055331
RCV002515856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124339.1:p.Thr301Met
CA158794
NM_001130867.2:c.902C>T