Allele Registry

Canonical Allele Identifier: PA916028883

Gene: ERCC6 HGNC NCBI

ClinVar RCV:

RCV000174989

RCV000307545

RCV000364521

RCV000397231

RCV004537372

ClinVar Variation:

194590

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333369.1:p.Arg975Gln	CA240638 NM_001346440.2:c.2924G>A