ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825559226
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2787541
ClinVar RCV Id:
RCV003639414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Glu149Gln
CA415175175
NM_001110792.2:c.445G>C