ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829068957
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156636
ClinVar RCV Id:
RCV000170088
RCV000767162
RCV001048888
RCV002260620
RCV000766080
RCV003162601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Arg255Gln
CA199452
NM_001386137.1:c.764G>A