ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826955755
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290402
ClinVar RCV Id:
RCV000361062
RCV002522026
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Val114Ala
CA10606762
NM_001316337.2:c.341T>C