Canonical Allele Identifier: PA916018465
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 194823
ClinVar RCV Id: RCV000175284 RCV000665715 RCV001161279 RCV001278511 RCV003917623
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Lys938Arg
CA241009
NM_001292009.1:c.2813A>G