ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326300
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143747
ClinVar RCV Id:
RCV000133291
RCV001420142
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Arg213Leu
CA233016
NM_001369392.2:c.638G>T