Canonical Allele Identifier: PA2828294545
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3470
ClinVar RCV Id: RCV000003635 RCV000984410 RCV001851621
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355822.1:p.Arg142Cys
CA116221
NM_001368893.2:c.424C>T