Canonical Allele Identifier: PA2825851487
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 357748
ClinVar RCV Id: RCV000337683 RCV000917647 RCV001074806 RCV001277025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136273.1:p.Val112Leu
CA3878094
NM_001142801.2:c.334G>C