ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828325173
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143611
ClinVar RCV Id:
RCV000133151
RCV000587767
RCV002515931
RCV003380475
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Pro83Arg
CA170319
NM_001369391.2:c.248C>G