ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326102
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143637
ClinVar RCV Id:
RCV000133177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Gly113Asp
CA232987
NM_001369392.2:c.338G>A