ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828327411
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Pro300Leu
CA232923
NM_001369393.2:c.899C>T