Allele Registry

Canonical Allele Identifier: PA2828325832

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000421418

RCV001810891

ClinVar Variation:

378124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356320.1:p.Arg378Thr	CA16609147 NM_001369391.2:c.1133G>C