ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830397067
Gene: PIK3R1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000147273
ClinVar Variation:
159719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852665.1:p.Thr69Ile
CA272459
NM_181524.2:c.206C>T