Canonical Allele Identifier: PA2829069151
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143746
ClinVar RCV Id: RCV000133290 RCV000256087 RCV001857484 RCV001778753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001373067.1:p.Arg83His
CA270588
NM_001386138.1:c.248G>A