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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:
PA2828710429
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2835057
ClinVar RCV Id:
RCV003686955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364225.1:p.Arg134Pro
CA379771653
NM_001377296.1:c.401G>C