ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680612
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964094
ClinVar RCV Id:
RCV001238242
RCV002402748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Ala571Thr
CA399493004
NM_001352776.2:c.1711G>A