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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161744.1:p.[Glu2225Arg;Asp2227del;Gln2229_Ser2231delinsThrAsn;Ile2233_Asp2242delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2244_Gln2250delinsLysThrSerSerMet;Lys2252_Arg2254del]
CA645535844
NM_001168272.2:c.6672_6673insAG