ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828327768
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143745
ClinVar RCV Id:
RCV000133289
RCV002515934
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Lys212Arg
CA270586
NM_001369394.2:c.635A>G