ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825559254
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1992323
ClinVar RCV Id:
RCV002795901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Thr172Asn
CA415174434
NM_001110792.2:c.515C>A