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: PA2826948952

Gene: DIAPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475698

ClinVar RCV Id: RCV000279070 RCV000421714 RCV001079161

ClinVar Variation Id: 963523

ClinVar RCV Id: RCV001237560 RCV003232259

ClinVar Variation Id: 1993883

ClinVar RCV Id: RCV002806442

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001300936.1:p.Pro619_Pro620dup	CA3479196 NM_001314007.2:c.1854_1859dup CA3479198 NM_001314007.2:c.1848_1853dup CA1082278911 NM_001314007.2:c.1859_1860insCCCTCC CA2578432701 NM_001314007.2:c.1853_1854insTCCACC CA2578432702 NM_001314007.2:c.1850_1851insACCTCC CA2839920776 NM_001314007.2:c.1854delinsTCCTCCT