Canonical Allele Identifier: PA2828293906
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_001355820.1:p.Pro172_Gln174del
CA5933863
NM_001368891.2:c.514_522del