ClinGen Allele Registry
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Canonical Allele Identifier:
PA916047759
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143562
ClinVar RCV Id:
RCV000133095
RCV000375578
RCV000698431
RCV002371979
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Ser41Cys
CA270396
NM_001369394.2:c.122C>G