Canonical Allele Identifier: PA232828
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 143102
ClinVar RCV Id: RCV000132623 RCV000666256 RCV001159868 RCV003905240 RCV003888553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Asn1163Lys
CA232827
NM_001142800.2:c.3489T>A
CA364785433
NM_001142800.2:c.3489T>G