ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825851798
Gene: EYS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136273.1:p.Cys461Tyr
CA3877771
NM_001142801.2:c.1382G>A