ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270336
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143528
ClinVar RCV Id:
RCV000133060
RCV002222406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Gly115Asp
CA270334
NM_001110792.2:c.344G>A