ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460103
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263731
ClinVar RCV Id:
RCV000249943
RCV001036469
RCV001127939
RCV001127940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Pro156Leu
CA8565489
NM_021991.4:c.467C>T