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: PA2580376486

Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2163579

ClinVar RCV Id: RCV003073364

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Lys2585Asn	CA1714340 NM_015120.4:c.7755G>C CA347263996 NM_015120.4:c.7755G>T