Allele Registry

Canonical Allele Identifier: PA294662

Gene: MECP2 HGNC NCBI

ClinVar RCV:

RCV000144771

RCV001800461

ClinVar Variation:

156628

HGVS (amino-acid)	Matching Registered Transcripts
NP_004983.1:p.Leu336Val	CA294661 NM_004992.4:c.1006C>G