Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826568691

Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300087

ClinVar RCV Id: RCV000307520 RCV000359960 RCV000731973 RCV000406265 RCV000871745 RCV004537692

ClinVar Variation Id: 300088

ClinVar RCV Id: RCV000267854 RCV000301875 RCV000358992

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001263988.1:p.Asp386Glu	CA5496378 NM_001277059.2:c.1158C>G CA10631775 NM_001277059.2:c.1158C>A