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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:
PA2573173010
Gene: KCNJ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1388498
ClinVar RCV Id:
RCV001877968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000882.1:p.Arg46Gly
CA400859942
NM_000891.3:c.136C>G