ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827681107
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000645214
RCV001124844
RCV001124845
RCV003303043
ClinVar Variation:
536636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Val232Ile
CA8565412
NM_001352777.2:c.694G>A