ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829368906
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468745
ClinVar RCV Id:
RCV000551963
RCV000624487
RCV003235283
RCV001548482
RCV002395414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Gly503Ser
CA8565194
NM_002230.4:c.1507G>A