Allele Registry

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Canonical Allele Identifier: PA2828327593

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 834679

ClinVar RCV Id: RCV001035415 RCV002274117

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356322.1:p.Ser393_Ter394insSerLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu	CA415162633 NM_001369393.2:c.1181G>C