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: PA2829384695

Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305307

ClinVar RCV Id: RCV001768514

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002825.3:p.Thr168Ser	CA386781838 NM_002834.5:c.502A>T CA386781842 NM_002834.5:c.503C>G