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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006713194.1:p.[Glu2218Arg;Asp2220del;Gln2222_Ser2224delinsThrAsn;Ile2226_Asp2235delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2237_Gln2243delinsLysThrSerSerMet;Lys2245_Arg2247del]
CA645535844
XM_006713131.3:c.6651_6652insAG