ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368255
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1450398
ClinVar RCV Id:
RCV002004836
RCV002334966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ala162Ser
CA399503612
NM_002230.4:c.484G>T