Allele Registry

Canonical Allele Identifier: PA916047756

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000133093

RCV001565841

ClinVar Variation:

143560

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356323.1:p.Arg40Leu	CA270390 NM_001369394.2:c.119G>T