ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808025
Gene: EYS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001136272.1:p.Val2077Ile
NM_001142800.2:c.6229G>A