ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA353412
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224119
ClinVar RCV Id:
RCV000209834
RCV001310467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161744.1:p.Gly2580Glu
CA353411
NM_001168272.2:c.7739G>A