Canonical Allele Identifier: PA260437
Gene: MECP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_004983.1:p.Lys192Ter
NM_004992.4:c.[566dup;568C>G;570C=;573C>T...

NM_004992.4:c.[566dup;568C>G;573C>T]

NM_004992.4:c.[566dup;568C>G;573C>T;575A>...

NM_004992.4:c.[573del;575A>T]

NM_004992.4:c.[573del;575A>T;577G>A]

NM_004992.4:c.[573del;575A>T;577G=]

NM_004992.4:c.574A>T