Canonical Allele Identifier: PA240288
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 194357
ClinVar RCV Id: RCV000174710 RCV000342934 RCV000678566 RCV001073420 RCV001844068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Asn745Ser
CA240287
NM_001142800.2:c.2234A>G