Allele Registry

Canonical Allele Identifier: PA645483792

Gene: ERCC6 HGNC NCBI

ClinVar RCV:

RCV000280376

RCV000335550

RCV000402785

RCV003114473

ClinVar Variation:

300080

HGVS (amino-acid)	Matching Registered Transcripts
NP_000115.1:p.Arg479Cys	CA5495972 NM_000124.4:c.1435C>T