ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233017
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143747
ClinVar RCV Id:
RCV000133291
RCV001420142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg306Leu
CA233016
NM_004992.4:c.917G>T