ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891848472
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590069
ClinVar RCV Id:
RCV001561656
RCV002318251
RCV003638705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg89Cys
CA10558644
NM_004992.4:c.265C>T