ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA232971
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000133119
RCV000170275
ClinVar Variation:
143581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Phe167Cys
CA232969
NM_001110792.2:c.500T>G