ClinGen Allele Registry
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Canonical Allele Identifier:
PA916047731
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_001356323.1:p.Arg13Gln
CA270348
NM_001369394.2:c.38G>A