Canonical Allele Identifier: PA2825559558
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143487
ClinVar RCV Id: RCV000133018 RCV003314564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Ser498_Ter499insArgLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA232948
NM_001110792.2:c.1495T>C
CA415162673
NM_001110792.2:c.1495T>A