ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: MECP2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000395535.2:p.[Val288del;Ala291_Ala299del;Lys301_Ser307del;Gln309_Val324del;Ile326_Val337del;Thr339_Ser353del;Gly355_Lys461del;Lys463_Arg465del;Glu467Ter]