Canonical Allele Identifier: PA645462787
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 357721
ClinVar RCV Id: RCV000309985 RCV000929860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Cys992Phe
CA3877230
NM_001142800.2:c.2975G>T