ClinGen Allele Registry
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Canonical Allele Identifier:
PA199295
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro390_Pro391del
CA199294
NM_004992.4:c.1168_1173del
CA232911
NM_004992.4:c.1161_1166del