ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829068547
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143737
ClinVar RCV Id:
RCV000133280
RCV002515933
RCV003114287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Pro79Arg
CA270572
NM_001386137.1:c.236C>G