ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828298081
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430901
ClinVar RCV Id:
RCV000603782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355839.1:p.Arg125Pro
CA379959478
NM_001368910.2:c.374G>C