ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354030
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222660
ClinVar RCV Id:
RCV000208478
RCV000587635
RCV001089102
RCV002345750
RCV003897457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ala187Val
CA354027
NM_002230.4:c.560C>T