Allele Registry

Canonical Allele Identifier: PA2829069854

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000132947

RCV000445563

RCV001512332

RCV004532594

ClinVar Variation:

143421

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373068.1:p.Glu171Lys	CA170197 NM_001386139.1:c.511G>A