Allele Registry

Canonical Allele Identifier: PA2826955547

Gene: MECP2 HGNC NCBI

ClinVar Allele:

361240

ClinVar RCV:

RCV000415409

RCV003144255

ClinVar Variation:

374353

HGVS (amino-acid)	Matching Registered Transcripts
NP_001303266.1:p.Arg18Lys	CA16043705 NM_001316337.2:c.53G>A