ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827678190
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2625424
ClinVar RCV Id:
RCV003380183
RCV003778134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Asp721Gly
CA399490476
NM_001352773.2:c.2162A>G