ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829069087
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Ala58Thr
CA10558543
NM_001386138.1:c.172G>A