ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573211001
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1679147
ClinVar RCV Id:
RCV002226590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Arg40Pro
CA415175270
NM_001369394.2:c.119G>C