ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326001
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_001356321.1:p.Thr67Asn
CA415174434
NM_001369392.2:c.200C>A