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: PA2741863226

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2772980

ClinVar RCV Id: RCV003496825

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Val425Leu	CA410397282 NM_001320298.2:c.1273G>T CA410397285 NM_001320298.2:c.1273G>C CA2579803036 NM_001320298.2:c.1273_1275delinsCTT CA2579803037 NM_001320298.2:c.1273_1275delinsTTA