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: PA2827680800

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 958935

ClinVar RCV Id: RCV001232198 RCV001760237 RCV002429990

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Ser730Asn	CA8564991 NM_001352776.2:c.2189G>A