Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.

Canonical Allele Identifier: PA2827043027

Gene: CBS HGNC NCBI

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Gly134Arg	CA320927 NM_001320298.2:c.400G>A CA321097659 NM_001320298.2:c.400G>C CA2579809704 NM_001320298.2:c.400_402delinsAGA CA3273299052 NM_001320298.2:c.400_402delinsCGT CA3273299060 NM_001320298.2:c.400_402delinsCGA CA3273299068 NM_001320298.2:c.400_402delinsCGC