ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA087790
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000208130
RCV000468133
RCV000656166
RCV001536180
RCV002354587
ClinVar Variation:
222661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Met193Thr
CA087549
NM_021991.4:c.578T>C