Allele Registry

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Canonical Allele Identifier: PA2829565821

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_004983.1:p.Ser486_Ter487insArgLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu	CA232948 NM_004992.4:c.1459T>C CA415162673 NM_004992.4:c.1459T>A