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: PA2828738880

Gene: MBD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486874

ClinVar RCV Id: RCV002003926

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365049.1:p.Met171Ile	CA348716958 NM_001378120.1:c.513G>A CA348716959 NM_001378120.1:c.513G>C CA348716960 NM_001378120.1:c.513G>T