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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:
PA645421877
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369753
ClinVar RCV Id:
RCV000415385
RCV000697424
RCV000678129
RCV001531362
RCV003315339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Arg201His
CA10654826
NM_172107.3:c.602G>A