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: PA2825037276

Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2948363

ClinVar RCV Id: RCV003807185

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Met573Ile	CA10459091 NM_000052.7:c.1719G>A CA413596790 NM_000052.7:c.1719G>T CA413596791 NM_000052.7:c.1719G>C