ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828326824
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000133104
RCV001849959
ClinVar Variation:
143569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Tyr48Cys
CA270411
NM_001369393.2:c.143A>G