Allele Registry

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Canonical Allele Identifier: PA2829565819

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_004983.1:p.Ser486_Ter487insLeuLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu	CA232951 NM_004992.4:c.1460G>T