ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826475979
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430901
ClinVar RCV Id:
RCV000603782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245394.1:p.Arg44Pro
CA379959478
NM_001258465.3:c.131G>C