ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827681134
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000183508
RCV000656182
RCV002399672
ClinVar Variation:
201830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Glu258Gly
CA308561
NM_001352777.2:c.773A>G