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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:
PA2828710658
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2146733
ClinVar RCV Id:
RCV003067279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Lys135Gln
CA5902265
NM_001377297.1:c.403A>C