Canonical Allele Identifier: PA2825851475
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 357749
ClinVar RCV Id: RCV000398864 RCV000955361 RCV001449944 RCV001700091
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136273.1:p.Pro94Gln
CA3878102
NM_001142801.2:c.281C>A