ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270391
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000133093
RCV001565841
ClinVar Variation:
143560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Arg133Leu
CA270390
NM_004992.4:c.398G>T