ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827680694
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000262154
RCV000355139
RCV001046526
RCV001764292
RCV002282119
RCV002411219
ClinVar Variation:
323165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Asn638His
CA8565090
NM_001352776.2:c.1912A>C