Allele Registry

Canonical Allele Identifier: PA247940

Gene: ERCC8 HGNC NCBI

ClinVar RCV:

RCV000180462

RCV000332330

RCV000584926

RCV001374546

RCV003917681

ClinVar Variation:

198989

HGVS (amino-acid)	Matching Registered Transcripts
NP_000073.1:p.Thr280Lys	CA247938 NM_000082.4:c.839C>A