ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825559219
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2028633
ClinVar RCV Id:
RCV002876235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Ala143Pro
CA415175357
NM_001110792.2:c.427G>C