ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047755
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143559
ClinVar RCV Id:
RCV000133092
RCV000169945
RCV002514766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Arg40His
CA274538
NM_001369394.2:c.119G>A