ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679242
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
198505
ClinVar RCV:
RCV000183484
RCV001056315
RCV004020217
ClinVar Variation:
201810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Asp136His
CA308456
NM_001352775.2:c.406G>C