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: PA2499248507

Gene: MAX HGNC NCBI

Linked Data

ClinVar Variation Id: 1001961

ClinVar RCV Id: RCV001298320

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307344.1:p.Gln49His	CA390031855 NM_001320415.2:c.147G>T CA390031856 NM_001320415.2:c.147G>C