ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828302002
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_001355852.1:p.Arg44Pro
CA379959478
NM_001368923.2:c.131G>C