Canonical Allele Identifier: PA170177
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143341
ClinVar RCV Id: RCV000132866 RCV001090499 RCV000694069 RCV004544305 RCV002260616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Ala390Val
CA170175
NM_001110792.2:c.1169C>T