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Canonical Allele Identifier: Get Identifier
Gene: JUP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000389886.1:p.[Val34delinsArgCys;Pro35dup;Val37_Glu47delinsAlaAlaArgAlaSerTrpArgArgMetArgPro;Cys49del;Arg51_Lys56delinsAlaSerThrArgSerArg;Thr58_Tyr61delinsProProLeu;Gln63Pro]
CA2515309945
ENST00000449889.5:c.99_100insAG