ClinGen Allele Registry
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Canonical Allele Identifier:
PA199301
Gene: MECP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004983.1:p.Pro402Leu
NM_004992.4:c.[1204_1205insT;1206C=;1209d...
NM_004992.4:c.[1204_1205insT;1207C=;1209d...
NM_004992.4:c.[1204_1205insT;1209del]
NM_004992.4:c.1205C>T