Canonical Allele Identifier: PA2828300675
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 372441
ClinVar RCV Id: RCV000413794 RCV000984424 RCV001388984 RCV002463362 RCV004529567
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355847.1:p.Arg247Trp
CA5933833
NM_001368918.2:c.739C>T