Allele Registry

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Canonical Allele Identifier: PA2829068974

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_001373066.1:p.Ser263_Ter264insLeuLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu	CA232951 NM_001386137.1:c.791G>T