Canonical Allele Identifier: PA916018522
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 167048
ClinVar RCV Id: RCV000153209 RCV000260927 RCV000895790 RCV004019833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Lys2009Glu
CA180012
NM_001292009.1:c.6025A>G