ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828300798
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430972
ClinVar RCV Id:
RCV000496060
RCV000635401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355848.1:p.Met1Leu