ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829369097
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228755
ClinVar RCV Id:
RCV000223497
RCV000291109
RCV001319509
RCV004020621
RCV000339154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Thr585Ala
CA8565141
NM_002230.4:c.1753A>G