Canonical Allele Identifier: PA2829068948
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433687
ClinVar RCV Id: RCV003132619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373066.1:p.Glu250dup
CA2580612305
NM_001386137.1:c.748_750dup