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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:
PA2499298021
Gene: PRRT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1024078
ClinVar RCV Id:
RCV001324218
RCV003387996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660282.2:p.Glu164Lys
CA7994537
NM_145239.3:c.490G>A