Canonical Allele Identifier: PA2580188796
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2188401
ClinVar RCV Id: RCV002620199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Gln2066Arg
CA140296103
NM_001292009.1:c.6197A>G