ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829069233
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143317
ClinVar RCV Id:
RCV000132841
RCV001465694
RCV003380457
RCV004532589
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Arg131Leu
CA170157
NM_001386138.1:c.392G>T