ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829369313
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2625424
ClinVar RCV Id:
RCV003380183
RCV003778134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Asp721Gly
CA399490476
NM_002230.4:c.2162A>G