Allele Registry

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.

Canonical Allele Identifier: PA2827680789

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2574017

ClinVar RCV Id: RCV003318446

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Met718Ile	CA399490524 NM_001352776.2:c.2154G>T CA399490526 NM_001352776.2:c.2154G>C CA399490530 NM_001352776.2:c.2154G>A