ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680091
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
163726
ClinVar RCV Id:
RCV000150854
RCV001071020
RCV002453485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Pro119Leu
CA176409
NM_001352776.2:c.356C>T