ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829069831
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Pro165Ser
CA274535
NM_001386139.1:c.493C>T