ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499303629
Gene: EYS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938024.1:p.Ala559Thr
CA364661104
NM_198283.2:c.1675G>A