ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829368740
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000468384
RCV002365645
RCV002526424
ClinVar Variation:
409988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Leu408Phe
CA8565250
NM_002230.4:c.1222C>T