Canonical Allele Identifier: PA2828298455
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385887
ClinVar RCV Id: RCV001871471 RCV002478248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355840.1:p.Pro187_Gln189del
CA5933863
NM_001368911.2:c.559_567del