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: PA2499300985

Gene: CRB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1059900

ClinVar RCV Id: RCV001369261

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_775960.4:p.Met1272Ile	CA199643109 NM_173689.7:c.3816G>A CA374869878 NM_173689.7:c.3816G>T CA374869879 NM_173689.7:c.3816G>C