ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580229883
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1745655
ClinVar RCV Id:
RCV002338247
RCV003523130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Pro79Ala
CA415173980
NM_001369394.2:c.235C>G