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: PA2580161733

Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2334654

ClinVar RCV Id: RCV002944352

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136336.2:p.Phe967Leu	CA286420431 NM_001142864.4:c.2901T>A CA397109847 NM_001142864.4:c.2901T>G CA397109858 NM_001142864.4:c.2899T>C