ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270571
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143736
ClinVar RCV Id:
RCV000133279
RCV001237156
RCV001571974
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro314His
CA270570
NM_001110792.2:c.941C>A