ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645401532
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429415
ClinVar RCV Id:
RCV000493837
RCV001257760
RCV001312686
RCV003448314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro374Ser
CA415168068
NM_001110792.2:c.1120C>T