Canonical Allele Identifier: PA1139698749
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 991090
ClinVar RCV Id: RCV001279234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Phe2550Ser
CA364385282
NM_001292009.1:c.7649T>C