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: PA2499280266

Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1009675

ClinVar RCV Id: RCV001307194

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Gly3657Arg	CA347286522 NM_015120.4:c.10969G>A CA347286523 NM_015120.4:c.10969G>C