×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827678176
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1508216
ClinVar RCV Id:
RCV002013827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Pro713Thr
CA399490620
NM_001352773.2:c.2137C>A