ClinGen Allele Registry
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Canonical Allele Identifier:
PA099171
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000133290
RCV000256087
RCV001778753
RCV001857484
ClinVar Variation:
143746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg306His
CA270588
NM_004992.4:c.917G>A