Canonical Allele Identifier: PA212530
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11824
ClinVar RCV Id: RCV000012597 RCV000081218 RCV000224156 RCV000202468 RCV000466020 RCV002287332 RCV001841244 RCV002444428 RCV002273927 RCV003224093 RCV004532325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Arg318Cys
CA212529
NM_001110792.2:c.952C>T