ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA137133
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45833
ClinVar RCV Id:
RCV000039062
RCV000533569
RCV003162344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Arg444His
CA137129
NM_021991.4:c.1331G>A