ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679295
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201813
ClinVar RCV Id:
RCV000183487
RCV001050476
RCV002345642
RCV003955111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Arg177Trp
CA308471
NM_001352775.2:c.529C>T