Canonical Allele Identifier: PA2829332248
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 40090
ClinVar RCV Id: RCV000033168 RCV003764654 RCV003883464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001595.2:p.Arg38Trp
CA261246
NM_001604.6:c.112C>T