ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139686777
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
892701
ClinVar RCV Id:
RCV001129133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Thr301Met
CA9513583
NM_000400.4:c.902C>T