Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.

Canonical Allele Identifier: PA2826337111

Gene: CEP57 HGNC NCBI

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230705.1:p.Pro242Ser	CA6239585 NM_001243776.2:c.724C>T