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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:
PA2825116333
Gene: PRNP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1334094
ClinVar RCV Id:
RCV001809309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000302.1:p.Gly131Glu
CA408152247
NM_000311.5:c.392G>A