ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828326173
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211466
ClinVar RCV Id:
RCV000192395
RCV000757451
RCV001043679
RCV003448285
RCV004530136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356321.1:p.Arg157Cys
CA205183
NM_001369392.2:c.469C>T