Canonical Allele Identifier: PA2580241909
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_001365381.1:p.Glu2240Asp
CA68827995
NM_001378452.1:c.6720G>C
CA351640652
NM_001378452.1:c.6720G>T