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: PA2826133086

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1306758

ClinVar RCV Id: RCV001770938

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171479.1:p.Ile437Thr	CA410397070 NM_001178008.3:c.1310T>C CA2579808068 NM_001178008.3:c.1310_1311delinsCT CA2579808070 NM_001178008.3:c.1310_1311delinsCA CA2579808071 NM_001178008.3:c.1310_1311delinsCG