ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325266
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143656
ClinVar RCV Id:
RCV000133197
RCV002472328
RCV001522685
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Gln134Glu
CA170355
NM_001369391.2:c.400C>G