Allele Registry

Canonical Allele Identifier: PA2829068947

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000421418

RCV001810891

ClinVar Variation:

378124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373066.1:p.Arg248Thr	CA16609147 NM_001386137.1:c.743G>C