Canonical Allele Identifier: PA645463475
Gene: EYS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Val3116del
CA3876671
NM_001142800.2:c.9345_9347del
CA2771457313
NM_001142800.2:c.9346_9347insACT