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: PA2828765172

Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447146

ClinVar RCV Id: RCV001988129

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Ser2581Arg	CA347263968 NM_001378454.1:c.7741A>C CA347263974 NM_001378454.1:c.7743C>A CA347263975 NM_001378454.1:c.7743C>G