ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828298042
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430971
ClinVar RCV Id:
RCV000496024
RCV003488635
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355839.1:p.His34Arg
CA379960125
NM_001368910.2:c.101A>G