Canonical Allele Identifier: PA916047794
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143603
ClinVar RCV Id: RCV000133142 RCV000193537 RCV000498300 RCV000688107 RCV002336285 RCV002252000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356323.1:p.Arg74Trp
CA170308
NM_001369394.2:c.220C>T