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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.[Glu2177Arg;Asp2179del;Gln2181_Ser2183delinsThrAsn;Ile2185_Asp2194delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2196_Gln2202delinsLysThrSerSerMet;Lys2204_Arg2206del]
CA645535844
NM_002222.7:c.6528_6529insAG