Canonical Allele Identifier: PA2828327594
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_001356322.1:p.Ser393_Ter394insLeuLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA232951
NM_001369393.2:c.1181G>T