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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:
PA2573280821
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1354687
ClinVar RCV Id:
RCV001887852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Leu714Pro
CA399490603
NM_021991.4:c.2141T>C