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: PA2827070955

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 405371

ClinVar RCV Id: RCV000467733 RCV002230757

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Ala404Thr	CA16616509 NM_001321072.1:c.1210G>A CA2579813016 NM_001321072.1:c.1210_1212delinsACG CA2579813017 NM_001321072.1:c.1210_1212delinsACT