ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828325554
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Glu272_Pro286del
CA16609349
NM_001369391.2:c.815_859del