Canonical Allele Identifier: PA1139698980
Gene: EYS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Asp3159Glu
CA3876666
NM_001292009.1:c.9477T>G
CA364382531
NM_001292009.1:c.9477T>A