ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825559207
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3124838
ClinVar RCV Id:
RCV004421695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Asp133His
CA415176516
NM_001110792.2:c.397G>C