ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354031
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Ala187Val
CA354027
NM_021991.4:c.560C>T