ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325936
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143560
ClinVar RCV Id:
RCV000133093
RCV001565841
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Arg40Leu
CA270390
NM_001369392.2:c.119G>T