ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA237208
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191670
ClinVar RCV Id:
RCV000171957
RCV000765351
RCV002408745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ile621Thr
CA237205
NM_002230.4:c.1862T>C