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: PA916024377

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 236937

ClinVar RCV Id: RCV001854831

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Phe99Leu	CA10583890 NM_001320298.2:c.297C>G CA410602017 NM_001320298.2:c.297C>A CA410602021 NM_001320298.2:c.295T>C CA2579805991 NM_001320298.2:c.295_297delinsCTG CA2579805992 NM_001320298.2:c.295_297delinsCTT