Allele Registry

Canonical Allele Identifier: PA2825285980

Gene: ERCC8 HGNC NCBI

ClinVar RCV:

RCV000180462

RCV000332330

RCV000584926

RCV001374546

RCV003917681

ClinVar Variation:

198989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007234.1:p.Thr222Lys	CA247938 NM_001007233.3:c.665C>A