ClinGen Allele Registry
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Canonical Allele Identifier:
PA260438
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001104262.1:p.Lys204Ter
NM_001110792.2:c.[602dup;604C>G;606C=;609...
NM_001110792.2:c.[602dup;604C>G;609C>T]
NM_001110792.2:c.[602dup;604C>G;609C>T;61...
NM_001110792.2:c.[609del;611A>T]
NM_001110792.2:c.[609del;611A>T;613G>A]
NM_001110792.2:c.[609del;611A>T;613G=]
NM_001110792.2:c.610A>T