Canonical Allele Identifier: PA2825505316
Gene: ITPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705544
ClinVar RCV Id: RCV002283858
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001093422.2:p.Glu2192Asp
CA68827995
NM_001099952.4:c.6576G>C
CA351640652
NM_001099952.4:c.6576G>T