Canonical Allele Identifier: PA2828301704
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 289849
ClinVar RCV Id: RCV000317485 RCV000635404 RCV003401272
ClinVar Variation Id: 1075401
ClinVar RCV Id: RCV001388985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355851.1:p.Gly18Arg
CA10606574
NM_001368922.2:c.52G>C
CA379959645
NM_001368922.2:c.52G>A