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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:
PA2828710735
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1501753
ClinVar RCV Id:
RCV002019901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Arg214Gly
CA379770021
NM_001377297.1:c.640C>G