Canonical Allele Identifier: PA2825851137
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 3027761
ClinVar RCV Id: RCV003891015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Asp2875His
CA364384345
NM_001142800.2:c.8623G>C