ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987201
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430972
ClinVar RCV Id:
RCV000496060
RCV000635401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001595.2:p.Met1Leu