ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680914
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1403658
ClinVar RCV Id:
RCV001909161
RCV003167082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Arg84Gly
CA399505898
NM_001352777.2:c.250C>G