ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828325947
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143564
ClinVar RCV Id:
RCV000133097
RCV000424796
RCV002354326
RCV003522932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Lys42Glu
CA270401
NM_001369392.2:c.124A>G