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: PA2825584313

Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544153

ClinVar RCV Id: RCV000655213

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116105.2:p.Met792Ile	CA350439808 NM_001122633.3:c.2376G>A CA350439809 NM_001122633.3:c.2376G>C CA350439810 NM_001122633.3:c.2376G>T