Canonical Allele Identifier: PA2825850635
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1053126
ClinVar RCV Id: RCV001361431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Phe2285Leu
CA364389038
NM_001142800.2:c.6855C>A
CA364389039
NM_001142800.2:c.6855C>G
CA364389044
NM_001142800.2:c.6853T>C