ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679906
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201805
ClinVar RCV Id:
RCV000183478
RCV000767068
RCV001327335
RCV002415781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Asp708Asn
CA308431
NM_001352775.2:c.2122G>A