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: PA2829068997

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156669

ClinVar RCV Id: RCV000726052 RCV000718449 RCV002265623 RCV002472364 RCV002514781 RCV004532634

ClinVar Variation Id: 2845786

ClinVar RCV Id: RCV003640178

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373067.1:p.Gly8Arg	CA294716 NM_001386138.1:c.22G>A CA415172511 NM_001386138.1:c.22G>C