ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826955688
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1189793
ClinVar RCV Id:
RCV001550288
RCV002568315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Pro83Ser
CA10558598
NM_001316337.2:c.247C>T