Canonical Allele Identifier: PA241170
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 194931
ClinVar RCV Id: RCV000175412 RCV000625444 RCV001161276 RCV001844069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Leu991Phe
CA241169
NM_001142800.2:c.2971C>T