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: PA2573074982

Gene: SGCG HGNC NCBI

Linked Data

ClinVar Variation Id: 448361

ClinVar RCV Id: RCV000518177 RCV001829477

ClinVar Variation Id: 1400512

ClinVar RCV Id: RCV001932746

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365173.1:p.Val254Met	CA6909833 NM_001378244.1:c.760G>A CA2573149098 NM_001378244.1:c.759_760delinsCA