ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828293753
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
863880
ClinVar RCV Id:
RCV001070950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355820.1:p.Leu32Arg
CA379959554
NM_001368891.2:c.95T>G