ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827679183
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392175
ClinVar RCV Id:
RCV000425824
RCV000645206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Arg86Gln
CA8565535
NM_001352775.2:c.257G>A