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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:
PA2580117746
Gene: KCNJ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2149616
ClinVar RCV Id:
RCV003065573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000882.1:p.Met24Val
CA400859793
NM_000891.3:c.70A>G