ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678355
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000150854
RCV001071020
RCV002453485
ClinVar Variation:
163726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Pro119Leu
CA176409
NM_001352774.2:c.356C>T