Canonical Allele Identifier: PA242184
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 195666
ClinVar RCV Id: RCV000176282 RCV000673072 RCV001075858 RCV001277985 RCV003422070
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Thr1084Pro
CA242183
NM_001142800.2:c.3250A>C