Canonical Allele Identifier: PA2829565822
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143490

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Ser486_Ter487insTrpLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA170257
NM_004992.4:c.1461A>G