ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828299355
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3471
ClinVar RCV Id:
RCV000003636
RCV002512714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355843.1:p.Val140Asp
CA116224
NM_001368914.2:c.419T>A