ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA308504
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201819
ClinVar RCV Id:
RCV000251525
RCV000475317
RCV000587522
RCV001293416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Gly298Ser
CA308501
NM_002230.4:c.892G>A