ClinGen Allele Registry
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Canonical Allele Identifier:
PA170273
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000133035
RCV000195208
RCV001414793
RCV002515929
RCV004532599
ClinVar Variation:
143504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro75Leu
CA170272
NM_004992.4:c.224C>T