ClinGen Allele Registry
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Canonical Allele Identifier:
PA916047746
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423593
ClinVar RCV Id:
RCV000478123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Asn33Asp
CA16621247
NM_001369394.2:c.97A>G