Allele Registry

Canonical Allele Identifier: PA294663

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000144771

RCV001800461

ClinVar Variation:

156628

HGVS (amino-acid)	Matching Registered Transcripts
NP_001104262.1:p.Leu348Val	CA294661 NM_001110792.2:c.1042C>G