ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828298891
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
460461
ClinVar RCV Id:
RCV000544207
ClinVar Variation Id:
492990
ClinVar RCV Id:
RCV000584820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355842.1:p.Met1Ile