Canonical Allele Identifier: PA2825559554
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 834679

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Ser498_Ter499insSerLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA415162633
NM_001110792.2:c.1496G>C