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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:
PA1139748698
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
855662
ClinVar RCV Id:
RCV001060976
RCV002445322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Leu295Pro
CA399500634
NM_021991.4:c.884T>C