Allele Registry

Canonical Allele Identifier: PA2829564940

Gene: MECP2 HGNC NCBI

ClinVar Allele:

361240

ClinVar RCV:

RCV000415409

RCV003144255

ClinVar Variation:

374353

HGVS (amino-acid)	Matching Registered Transcripts
NP_004983.1:p.Arg111Lys	CA16043705 NM_004992.4:c.332G>A