Allele Registry

Canonical Allele Identifier: PA2828325119

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000133119

RCV000170275

ClinVar Variation:

143581

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356320.1:p.Phe62Cys	CA232969 NM_001369391.2:c.185T>G