ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460362
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409988
ClinVar RCV Id:
RCV000468384
RCV002365645
RCV002526424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Leu408Phe
CA8565250
NM_021991.4:c.1222C>T