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Canonical Allele Identifier: Get Identifier
Gene: TOR1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000345719.4:p.[Leu272_Leu277delinsProGlyIleGlnThrPro;Met279_Arg282delinsAsn;Glu284_Gln286delinsTyrPro;Arg288del;Tyr290_Ile296delinsAsnAla;Ser298Pro;Val300_Ala301delinsLeu]
CA2832555374
ENST00000351698.5:c.814dup