Canonical Allele Identifier: PA916018536
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 143108
ClinVar RCV Id: RCV000132629 RCV001075666 RCV001062126 RCV001826794
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Gly2186Glu
CA270059
NM_001292009.1:c.6557G>A