Allele Registry

Canonical Allele Identifier: PA2829069145

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000416950

ClinVar Variation:

375525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373067.1:p.Lys82Asn	CA16044336 NM_001386138.1:c.246G>T CA415169010 NM_001386138.1:c.246G>C