Allele Registry

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Canonical Allele Identifier: PA2828327590

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143487

ClinVar RCV Id: RCV000133018 RCV003314564

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356322.1:p.Ser393_Ter394insArgLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu	CA232948 NM_001369393.2:c.1180T>C CA415162673 NM_001369393.2:c.1180T>A