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: PA2827070325

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 373629

ClinVar RCV Id: RCV000413391

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Pro177Ser	CA16043118 NM_001321072.1:c.529C>T CA2579805465 NM_001321072.1:c.529_531delinsTCT CA2579805466 NM_001321072.1:c.529_531delinsAGT