Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2827312797

Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 40499

ClinVar RCV Id: RCV000033470 RCV000151689 RCV000586528 RCV000686123 RCV003150933 RCV004532486

ClinVar Variation Id: 477670

ClinVar RCV Id: RCV000534502 RCV000593077

ClinVar Variation Id: 2582571

ClinVar RCV Id: RCV003333581 RCV003333582 RCV003333580

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317366.1:p.Phe71Leu	CA273215 NM_001330437.2:c.211T>C CA386777846 NM_001330437.2:c.213T>A CA386777847 NM_001330437.2:c.213T>G