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: PA2828326129

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 236303

ClinVar RCV Id: RCV000225601

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356321.1:p.Phe133Leu	CA10581614 NM_001369392.2:c.399T>G CA415172665 NM_001369392.2:c.399T>A CA415172685 NM_001369392.2:c.397T>C