ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103667
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179756
ClinVar RCV Id:
RCV000156554
RCV000253975
RCV000315534
RCV000393399
RCV000656851
RCV000692565
RCV001375636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Thr19Ile
CA185075
NM_002230.4:c.56C>T