Canonical Allele Identifier: PA270182
Gene: MECP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Ser346Arg
CA270181
NM_004992.4:c.1038C>G
CA415168250
NM_004992.4:c.1038C>A
CA415168260
NM_004992.4:c.1036A>C