ClinGen Allele Registry
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Canonical Allele Identifier:
PA202774
Gene: MECP2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001104262.1:p.Ser216Ter
NM_001110792.2:c.647C>A
NM_001110792.2:c.647C>G
NM_001110792.2:c.647_648delinsAG