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: PA2826638232

Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1464654

ClinVar RCV Id: RCV001956945

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Met1310Ile	CA413605819 NM_001282224.2:c.3930G>A CA413605820 NM_001282224.2:c.3930G>T CA413605821 NM_001282224.2:c.3930G>C