ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698735
Gene: EYS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Ala2498Pro
CA364385854
NM_001292009.1:c.7492G>C