ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828298069
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40090
ClinVar RCV Id:
RCV000033168
RCV003764654
RCV003883464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355839.1:p.Arg119Trp
CA261246
NM_001368910.2:c.355C>T