ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827678076
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000183506
RCV001852358
RCV003298239
ClinVar Variation:
201829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Ser627Leu
CA308556
NM_001352773.2:c.1880C>T