ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368365
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ala221Thr
CA8565419
NM_002230.4:c.661G>A