ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828327444
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
138195
ClinVar RCV Id:
RCV000169924
RCV000526298
RCV001088771
RCV002260613
RCV002316388
RCV002483250
RCV004544269
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Pro309Leu
CA199300
NM_001369393.2:c.926C>T