ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104508
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
329522
ClinVar RCV Id:
RCV000349442
RCV000435999
RCV002256206
RCV003470316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Cys259Tyr
CA9513634
NM_000400.4:c.776G>A