ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460093
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000455097
RCV000619988
RCV000645204
RCV000786329
ClinVar Variation:
402991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Ile131del
CA16609792
NM_021991.4:c.392_394del