ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679195
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201809
ClinVar RCV Id:
RCV000183483
RCV001798638
RCV001047557
RCV001192707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Glu96Lys
CA308451
NM_001352775.2:c.286G>A