Canonical Allele Identifier: PA278999
Gene: ITPR1 HGNC NCBI
ClinVar RCV:
RCV000198932
ClinVar Variation:
216945
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002213.5:p.Ser277Ile
CA278997
NM_002222.7:c.830G>T