Canonical Allele Identifier: PA247940
Gene: ERCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 198989
ClinVar RCV Id: RCV000180462 RCV000332330 RCV000584926 RCV001374546 RCV003917681
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Amino-acid Alleles

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