ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326852
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143581
ClinVar RCV Id:
RCV000133119
RCV000170275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Phe62Cys
CA232969
NM_001369393.2:c.185T>G