ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680613
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45839
ClinVar RCV Id:
RCV000039068
RCV001241393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Ala571Ser
CA137151
NM_001352776.2:c.1711G>T