Canonical Allele Identifier: PA147158
Gene: EYS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Leu1748Phe
CA147156
NM_001292009.1:c.5244A>C
CA364781523
NM_001292009.1:c.5244A>T