Allele Registry

Canonical Allele Identifier: PA199483

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000170251

RCV000588422

RCV000822137

RCV001582501

RCV003162262

ClinVar Variation:

36490

HGVS (amino-acid)	Matching Registered Transcripts
NP_004983.1:p.Pro384Leu	CA199482 NM_004992.4:c.1151C>T