Canonical Allele Identifier: PA2825851680
Gene: EYS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136273.1:p.Glu335Asp
CA3877903
NM_001142801.2:c.1005G>T
CA364662662
NM_001142801.2:c.1005G>C