ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325120
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000012579
ClinVar Variation:
11810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Phe62Ser
CA256087
NM_001369391.2:c.185T>C