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: PA2580389573

Gene: PIKFYVE HGNC NCBI

Linked Data

ClinVar Variation Id: 2249949

ClinVar RCV Id: RCV002757771

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055855.2:p.Thr1136Ser	CA350115470 NM_015040.4:c.3406A>T CA350115473 NM_015040.4:c.3407C>G