ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828301290
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1385887
ClinVar RCV Id:
RCV001871471
RCV002478248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355849.1:p.Pro197_Gln199del
CA5933863
NM_001368920.2:c.589_597del