Canonical Allele Identifier: PA2499246715
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1060290
ClinVar RCV Id: RCV001369700 RCV001831291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Asn2854Lys
CA364384630
NM_001292009.1:c.8562T>G
CA364384631
NM_001292009.1:c.8562T>A