ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827678424
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191675
ClinVar RCV Id:
RCV000171963
RCV000208296
RCV000244325
RCV000466475
RCV000499623
RCV001198755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Arg176Trp
CA237230
NM_001352774.2:c.526C>T