ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099511
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143562
ClinVar RCV Id:
RCV000133095
RCV000375578
RCV000698431
RCV002371979
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ser134Cys
CA270396
NM_004992.4:c.401C>G