ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827681031
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Arg177Trp
CA308471
NM_001352777.2:c.529C>T