Canonical Allele Identifier: PA916018500
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 167051
ClinVar RCV Id: RCV000153212 RCV000584981 RCV000625442 RCV001164682 RCV003965140 RCV003888588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Asp1662Val
CA180014
NM_001292009.1:c.4985A>T