ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828761689
Gene: ITPR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208786
ClinVar RCV Id:
RCV000190812
RCV000677366
RCV001552791
RCV003152595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365381.1:p.Thr267Met
CA204907
NM_001378452.1:c.800C>T