ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828328099
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Pro229Ala
CA274540
NM_001369394.2:c.685C>G