Canonical Allele Identifier: PA2828301440
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_001355849.1:p.Gln447_Ter448insLeuLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA252798
NM_001368920.2:c.1343A>T