ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829565068
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493552
ClinVar RCV Id:
RCV000585605
RCV000780398
RCV002065127
RCV004530635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ser178Cys
CA10558596
NM_004992.4:c.533C>G