Canonical Allele Identifier: PA2828298723
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3471
ClinVar RCV Id: RCV000003636 RCV002512714
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355841.1:p.Val140Asp
CA116224
NM_001368912.2:c.419T>A