ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825559205
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1098273
ClinVar RCV Id:
RCV001420143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Asp133Val
CA415176492
NM_001110792.2:c.398A>T