Allele Registry

Canonical Allele Identifier: PA170198

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000132947

RCV000445563

RCV001512332

RCV004532594

ClinVar Variation:

143421

HGVS (amino-acid)	Matching Registered Transcripts
NP_004983.1:p.Glu394Lys	CA170197 NM_004992.4:c.1180G>A