Allele Registry

Canonical Allele Identifier: PA916028826

Gene: ERCC6 HGNC NCBI

ClinVar RCV:

RCV000296235

RCV000348685

RCV000388161

RCV000923032

ClinVar Variation:

300085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333369.1:p.Glu387Lys	CA5496377 NM_001346440.2:c.1159G>A