ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828302219
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000544207
RCV000584820
ClinVar Variation:
460461
492990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355853.1:p.Met1Ile