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.
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Canonical Allele Identifier: PA2826133412

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2793732

ClinVar RCV Id: RCV003598372

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171480.1:p.Ala158Thr	CA410601481 NM_001178009.3:c.472G>A CA2579813167 NM_001178009.3:c.472_474delinsACT CA2579813932 NM_001178009.3:c.472_474delinsACC