ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270394
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143561
ClinVar RCV Id:
RCV000133094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ser134Pro
CA270393
NM_004992.4:c.400T>C