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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA658832649

Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 557922

ClinVar RCV Id: RCV000674122 RCV002245577 RCV002245576

ClinVar Variation Id: 1476628

ClinVar RCV Id: RCV002014869

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274103.1:p.Trp1339Arg	CA379791109 NM_001287174.3:c.4015T>C CA379791113 NM_001287174.3:c.4015T>A