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: PA2827070594

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2146085

ClinVar RCV Id: RCV003066949

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Cys265Arg	CA410398046 NM_001321072.1:c.793T>C CA2579811402 NM_001321072.1:c.793_795delinsCGA CA2579811403 NM_001321072.1:c.793_795delinsCGT CA2579811404 NM_001321072.1:c.793_795delinsAGG CA2579811405 NM_001321072.1:c.793_795delinsCGG