ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829565009
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1723812
ClinVar RCV Id:
RCV002306373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Leu150Val
CA415174765
NM_004992.4:c.448C>G