Canonical Allele Identifier: PA2825850670
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 991101
ClinVar RCV Id: RCV001279247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Phe2319Leu
CA364388618
NM_001142800.2:c.6957C>G
CA364388621
NM_001142800.2:c.6957C>A
CA364388630
NM_001142800.2:c.6955T>C