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: PA2825585072

Gene: PHKA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2881961

ClinVar RCV Id: RCV003623677

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116142.1:p.His237Gln	CA331072338 NM_001122670.2:c.711C>G CA413594418 NM_001122670.2:c.711C>A