ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827679385
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1329046
ClinVar RCV Id:
RCV001797937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Ala246Asp
CA399501626
NM_001352775.2:c.737C>A