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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:
PA2830344380
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
965462
ClinVar RCV Id:
RCV001239919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Arg155His
CA9958812
NM_172106.3:c.464G>A