ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827680162
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Arg177Gln
CA181274
NM_001352776.2:c.530G>A