ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645460403
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
323168
ClinVar RCV Id:
RCV000303926
RCV000397661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Asp573Val
CA10650099
NM_021991.4:c.1718A>T