Canonical Allele Identifier: PA2828299077
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385887
ClinVar RCV Id: RCV001871471 RCV002478248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355842.1:p.Pro186_Gln188del
CA5933863
NM_001368913.2:c.556_564del