ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270386
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Ala143Asp
CA270384
NM_001110792.2:c.428C>A