Canonical Allele Identifier: PA2828292719
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3474
ClinVar RCV Id: RCV000003642 RCV000327291 RCV000762838 RCV000785745 RCV000805010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355816.1:p.Gln422_Ter423insLeuLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA252798
NM_001368887.2:c.1268A>T