ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827678024
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
930073
ClinVar RCV Id:
RCV001195494
RCV001324254
RCV003163495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Arg582Trp
CA8565142
NM_001352773.2:c.1744C>T