ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828298418
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_001355840.1:p.Val141Asp
CA116224
NM_001368911.2:c.422T>A