ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA308459
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002221.1:p.Asp136His
NM_002230.4:c.406G>C