Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826948950

Gene: DIAPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 542361

ClinVar RCV Id: RCV000652770 RCV003918079 RCV004025885

ClinVar Variation Id: 665955

ClinVar RCV Id: RCV000824349 RCV001546501

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001300936.1:p.Pro618_Pro620dup	CA563502796 NM_001314007.2:c.1852_1860dup CA563502799 NM_001314007.2:c.1845_1853dup