ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368254
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2946944
ClinVar RCV Id:
RCV003801134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ala162Thr
CA399503615
NM_002230.4:c.484G>A