Canonical Allele Identifier: PA2825851100
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1060290
ClinVar RCV Id: RCV001369700 RCV001831291
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Asn2833Lys
CA364384630
NM_001142800.2:c.8499T>G
CA364384631
NM_001142800.2:c.8499T>A