Canonical Allele Identifier: PA092967
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 189230
ClinVar RCV Id: RCV000177524 RCV000169660 RCV001075403 RCV001376308 RCV001723741 RCV003895170
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Cys2139Tyr
CA199162
NM_001292009.1:c.6416G>A