ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828301184
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68469
ClinVar RCV Id:
RCV000059340
RCV001200041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355849.1:p.Gly76Val
CA145185
NM_001368920.2:c.227G>T