ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828326998
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000133197
RCV001522685
RCV002472328
ClinVar Variation:
143656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Gln134Glu
CA170355
NM_001369393.2:c.400C>G