Canonical Allele Identifier: PA2825850458
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1482003
ClinVar RCV Id: RCV002025072
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Ser2094Asn
CA364391447
NM_001142800.2:c.6281G>A