Canonical Allele Identifier: PA2829366274
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705544
ClinVar RCV Id: RCV002283858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Glu2177Asp
CA68827995
NM_002222.7:c.6531G>C
CA351640652
NM_002222.7:c.6531G>T