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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826955711
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2117601
ClinVar RCV Id:
RCV003027825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Gly92Cys
CA415173667
NM_001316337.2:c.274G>T