ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645460368
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409984
ClinVar RCV Id:
RCV000466222
RCV001753895
RCV002374789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Thr427Met
CA8565242
NM_021991.4:c.1280C>T