Canonical Allele Identifier: PA202473
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 137257
ClinVar RCV Id: RCV000177451 RCV000882506 RCV001003019 RCV001292621
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Val2040Asp
CA202471
NM_001292009.1:c.6119T>A