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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:
PA2580536547
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1790707
ClinVar RCV Id:
RCV002450244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_751951.1:p.Thr8Ile
CA10013386
NM_172201.2:c.23C>T