Canonical Allele Identifier: PA916058593
Gene: EYS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_938024.1:p.Lys532Asn
CA3877691
NM_198283.2:c.1596A>C
CA364661293
NM_198283.2:c.1596A>T