ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827678089
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
323165
ClinVar RCV Id:
RCV000262154
RCV000355139
RCV001046526
RCV001764292
RCV002411219
RCV002282119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Asn638His
CA8565090
NM_001352773.2:c.1912A>C