ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827681193
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178042
ClinVar RCV Id:
RCV000154727
RCV000171961
RCV000467285
RCV002372009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Asn309Ser
CA181264
NM_001352777.2:c.926A>G