Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA2825047048

Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2401231

ClinVar RCV Id: RCV002758699

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000115.1:p.Gly1108Arg	CA5495366 NM_000124.4:c.3322G>A CA376715715 NM_000124.4:c.3322G>C