Canonical Allele Identifier: PA916047819
Gene: MECP2 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001356323.1:p.Lys99Ter
NM_001369394.2:c.[287dup;289C>G;294C>T]

NM_001369394.2:c.[294del;296A>T]

NM_001369394.2:c.[294del;296A>T;298G>A]

NM_001369394.2:c.[294del;296A>T;298G=]

NM_001369394.2:c.295A>T