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: PA2580206246

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1774824

ClinVar RCV Id: RCV002403148

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Arg51Ser	CA410602336 NM_001320298.2:c.153G>T CA410602337 NM_001320298.2:c.153G>C CA2579812434 NM_001320298.2:c.151_152delinsTC