ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829564940
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374353
ClinVar RCV Id:
RCV000415409
RCV003144255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg111Lys
CA16043705
NM_004992.4:c.332G>A