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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:
PA2829530334
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2099779
ClinVar RCV Id:
RCV003021889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Glu257Gln
CA409653483
NM_004518.5:c.769G>C