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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000346595.8:p.[Glu2232Arg;Asp2234del;Gln2236_Ser2238delinsThrAsn;Ile2240_Asp2249delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2251_Gln2257delinsLysThrSerSerMet;Lys2259_Arg2261del]
CA645535844
ENST00000354582.12:c.6693_6694insAG