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: PA2580161935

Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2434710

ClinVar RCV Id: RCV003134836

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136336.2:p.Phe2093Leu	CA397084237 NM_001142864.4:c.6279C>A CA397084239 NM_001142864.4:c.6279C>G CA397084255 NM_001142864.4:c.6277T>C