ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829564907
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487257
RCV001775123
RCV002525978
ClinVar Variation:
424578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg85Cys
CA16621248
NM_004992.4:c.253C>T