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: PA913191886

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 633070

ClinVar RCV Id: RCV000780932

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Cys1100Ser	CA388028549 NM_000053.4:c.3299G>C CA388028574 NM_000053.4:c.3298T>A