Canonical Allele Identifier: PA2828326728
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_001356321.1:p.Ser393_Ter394insTrpLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA170257
NM_001369392.2:c.1182A>G