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: PA2829069353

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143389

ClinVar RCV Id: RCV000132915 RCV000602397 RCV003638623

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373067.1:p.Pro168del	CA232908 NM_001386138.1:c.492_494del CA1138553958 NM_001386138.1:c.495_497del CA2695100356 NM_001386138.1:c.501_503del CA2695100362 NM_001386138.1:c.498_500del