ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826940370
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3470
ClinVar RCV Id:
RCV000003635
RCV000984410
RCV001851621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001297088.1:p.Arg128Cys
CA116221
NM_001310159.1:c.382C>T