ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078754
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143744
ClinVar RCV Id:
RCV000133288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Lys82Glu
CA270583
NM_001386139.1:c.244A>G