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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:
PA2826394365
Gene: PRRT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1699415
ClinVar RCV Id:
RCV002273272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243371.1:p.Glu257Lys
CA395479619
NM_001256442.2:c.769G>A