Canonical Allele Identifier: PA2825851887
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 287293
ClinVar RCV Id: RCV000297195 RCV001833372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136273.1:p.Cys554Ser
CA3877651
NM_001142801.2:c.1660T>A
CA364661137
NM_001142801.2:c.1661G>C