Allele Registry

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Canonical Allele Identifier: PA2828325245

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143644

ClinVar RCV Id: RCV000133184 RCV000645121 RCV001719907 RCV002354329 RCV003380478 RCV004532607

ClinVar Variation Id: 1135970

ClinVar RCV Id: RCV001471449

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356320.1:p.Arg118Ser	CA170349 NM_001369391.2:c.354G>C CA415172926 NM_001369391.2:c.354G>T