ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680952
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191677
ClinVar RCV Id:
RCV000171965
RCV001067921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Asn112Ser
CA237240
NM_001352777.2:c.335A>G