Canonical Allele Identifier: PA2825559555
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143490
ClinVar RCV Id: RCV000133021 RCV001379701 RCV002472325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Ser498_Ter499insTrpLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA170257
NM_001110792.2:c.1497A>G