Canonical Allele Identifier: PA916047806
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 197246
ClinVar RCV Id: RCV000678233 RCV001472971 RCV002317047 RCV002472369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Pro83His
CA245268
NM_001369394.2:c.248C>A