ClinGen Allele Registry
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Canonical Allele Identifier:
PA260437
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004983.1:p.Lys192Ter
NM_004992.4:c.[566dup;568C>G;570C=;573C>T...
NM_004992.4:c.[566dup;568C>G;573C>T]
NM_004992.4:c.[566dup;568C>G;573C>T;575A>...
NM_004992.4:c.[573del;575A>T]
NM_004992.4:c.[573del;575A>T;577G>A]
NM_004992.4:c.[573del;575A>T;577G=]
NM_004992.4:c.574A>T