ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828328032
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236302
ClinVar RCV Id:
RCV000225456
RCV001056633
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Pro124Leu
CA10581615
NM_001369394.2:c.371C>T