ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807484
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000619833
RCV001049613
RCV001121973
RCV001127758
ClinVar Variation:
519401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Arg526Cys
CA8565187
NM_021991.4:c.1576C>T