ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057252040
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Lys192Glu
CA415173368
NM_004992.4:c.574A>G