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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:
PA342996
Gene: PRSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132152
ClinVar RCV Id:
RCV000119049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002760.1:p.Cys139Ser