ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA185423
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179915
ClinVar RCV Id:
RCV000156716
RCV000766385
RCV001068833
RCV003162646
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Arg637Cys
CA185419
NM_021991.4:c.1909C>T