Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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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: PA2825559206

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 995700

ClinVar RCV Id: RCV001810713

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001104262.1:p.Asp133Glu	CA415176488 NM_001110792.2:c.399T>A CA415176490 NM_001110792.2:c.399T>G