ClinGen Allele Registry
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Canonical Allele Identifier:
PA270349
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143534
ClinVar RCV Id:
RCV000133067
RCV001542086
RCV003333738
RCV003989324
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Arg118Gln
CA270348
NM_001110792.2:c.353G>A