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: PA915989786

Gene: CGREF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 335503

ClinVar RCV Id: RCV000261225

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159712.1:p.Met128Ile	CA1569509 NM_001166240.2:c.384G>A CA346166247 NM_001166240.2:c.384G>C CA346166250 NM_001166240.2:c.384G>T