ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671959
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409989
ClinVar RCV Id:
RCV000475805
RCV000618384
RCV001799663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ala522Val
CA16615357
NM_002230.4:c.1565C>T