ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208888
Gene: MECP2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001104262.1:p.Val493Met
NM_001110792.2:c.1477G>A