Canonical Allele Identifier: PA2825559556
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143488
ClinVar RCV Id: RCV000133019 RCV004527357
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Ser498_Ter499insLeuLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA232951
NM_001110792.2:c.1496G>T