ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828301256
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3470
ClinVar RCV Id:
RCV000003635
RCV000984410
RCV001851621
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355849.1:p.Arg153Cys
CA116221
NM_001368920.2:c.457C>T