ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825285980
Gene: ERCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198989
ClinVar RCV Id:
RCV000180462
RCV000332330
RCV000584926
RCV001374546
RCV003917681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007234.1:p.Thr222Lys
CA247938
NM_001007233.3:c.665C>A