Canonical Allele Identifier: PA2829069996
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1667533
ClinVar RCV Id: RCV002195782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373068.1:p.Glu249Asp
CA415163310
NM_001386139.1:c.747G>C
CA415163315
NM_001386139.1:c.747G>T