Canonical Allele Identifier: PA211253
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11811
ClinVar RCV Id: RCV000012580 RCV000133129 RCV000169935 RCV000170109 RCV000170110 RCV000623451 RCV000763199 RCV001813975 RCV002247328 RCV002273926 RCV003984805 RCV004540995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Thr170Met
CA211252
NM_001110792.2:c.509C>T