ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825559217
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2852774
ClinVar RCV Id:
RCV003640266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Lys142Glu
CA415175379
NM_001110792.2:c.424A>G