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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA1139684815

Gene: JAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 892391

ClinVar RCV Id: RCV001128368

ClinVar Variation Id: 2649556

ClinVar RCV Id: RCV003406898

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000206.2:p.Met1097Leu	CA306119638 NM_000215.4:c.3289A>T CA404763079 NM_000215.4:c.3289A>C