Canonical Allele Identifier: PA2580189018
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2127363
ClinVar RCV Id: RCV003055460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Cys2905Ser
CA364384284
NM_001292009.1:c.8714G>C
CA364384287
NM_001292009.1:c.8713T>A