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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:
PA645421841
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427046
ClinVar RCV Id:
RCV000489646
RCV001340746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Val182Met
CA409654914
NM_172107.3:c.544G>A