ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680818
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016429
ClinVar RCV Id:
RCV001315437
RCV002431896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Met743Val
CA399490218
NM_001352776.2:c.2227A>G