Canonical Allele Identifier: PA2828327711
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143700
ClinVar RCV Id: RCV000133241 RCV000707260 RCV000766083 RCV001284746 RCV001800457 RCV004019751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Arg175Trp
CA233007
NM_001369394.2:c.523C>T