ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829068644
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158880
ClinVar RCV Id:
RCV000193184
RCV000724672
RCV001432219
RCV002472366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Arg131Cys
CA206493
NM_001386137.1:c.391C>T