ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828292392
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430972
ClinVar RCV Id:
RCV000496060
RCV000635401
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355816.1:p.Met1Leu