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: PA2741850739

Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2948363

ClinVar RCV Id: RCV003807185

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Met573Ile	CA10459091 NM_001282224.2:c.1719G>A CA413596790 NM_001282224.2:c.1719G>T CA413596791 NM_001282224.2:c.1719G>C