ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680130
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449256
ClinVar RCV Id:
RCV000522559
RCV001212816
RCV003380597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Glu154Lys
CA8565490
NM_001352776.2:c.460G>A