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: PA2827043001

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1732354

ClinVar RCV Id: RCV002459400

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Val118Leu	CA410601886 NM_001320298.2:c.352G>T CA410601887 NM_001320298.2:c.352G>C CA2579803336 NM_001320298.2:c.352_354delinsCTT CA2579803341 NM_001320298.2:c.352_354delinsTTA