ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828301253
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3471
ClinVar RCV Id:
RCV000003636
RCV002512714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355849.1:p.Val151Asp
CA116224
NM_001368920.2:c.452T>A