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Canonical Allele Identifier: Get Identifier
Gene: ITPR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498056.1:p.[Glu2226Arg;Asp2228del;Gln2230_Ser2232delinsThrAsn;Ile2234_Asp2243delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2245_Gln2251delinsLysThrSerSerMet;Lys2253_Arg2255del]
CA645535844
ENST00000650294.1:c.6675_6676insAG