ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828325544
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429415
ClinVar RCV Id:
RCV000493837
RCV001257760
RCV001312686
RCV003448314
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Pro269Ser
CA415168068
NM_001369391.2:c.805C>T