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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:
PA2830346630
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419718
ClinVar RCV Id:
RCV000485355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Glu231Gln
CA16620974
NM_172108.3:c.691G>C