Allele Registry

Canonical Allele Identifier: PA645483750

Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000267854

RCV000301875

RCV000307520

RCV000358992

RCV000359960

RCV000406265

RCV000731973

RCV000871745

RCV004537692

ClinVar Variation:

300087

300088

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000115.1:p.Asp386Glu	CA5496378 NM_000124.4:c.1158C>G CA10631775 NM_000124.4:c.1158C>A