ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057539515
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005214188
ClinVar Variation:
3751691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Tyr729Phe
CA399490381
NM_021991.4:c.2186A>T