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: PA2573160095

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1516399

ClinVar RCV Id: RCV002023924 RCV002509746 RCV002548851

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Thr888Ser	CA388034452 NM_000053.4:c.2663C>G CA388034459 NM_000053.4:c.2662A>T