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: PA2828041023

Gene: XPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2531612

ClinVar RCV Id: RCV003249914

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341904.1:p.Met221Ile	CA5148669 NM_001354975.2:c.663G>A CA374185320 NM_001354975.2:c.663G>T CA374185321 NM_001354975.2:c.663G>C