Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA891863922

Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 592062

ClinVar RCV Id: RCV000723248 RCV001317094 RCV001825443

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Gly57Arg	CA381455564 NM_024649.5:c.169G>A CA381455572 NM_024649.5:c.169G>C