Canonical Allele Identifier: PA916018599
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 444685
ClinVar RCV Id: RCV000513040 RCV001162434 RCV001271835 RCV002248747 RCV001376277
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Gly3152Ala
CA3876667
NM_001292009.1:c.9455G>C