Canonical Allele Identifier: PA2828296608
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3474
ClinVar RCV Id: RCV000003642 RCV000327291 RCV000762838 RCV000785745 RCV000805010
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355830.1:p.Gln286_Ter287insLeuLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA252798
NM_001368901.2:c.860A>T