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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:
PA2826275810
Gene: KCNQ3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1515090
ClinVar RCV Id:
RCV002020839
RCV002372810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191753.1:p.Lys177Glu
CA372290390
NM_001204824.2:c.529A>G