Canonical Allele Identifier: PA1139698681
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 991101
ClinVar RCV Id: RCV001279247
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Phe2319Leu
CA364388618
NM_001292009.1:c.6957C>G
CA364388621
NM_001292009.1:c.6957C>A
CA364388630
NM_001292009.1:c.6955T>C