ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825559457
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Glu377_Pro391del
CA16609349
NM_001110792.2:c.1130_1174del